Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

ClinVar: updates to support classifications of both germline and somatic variants.

Nucleic acids research - 6 Jan 2025

Landrum Melissa J, Chitipiralla Shanmuga, Kaur Kuljeet, Brown Garth, Chen Chao, Hart Jennifer, Hoffman Douglas, Jang Wonhee, Liu Chunlei, Maddipatla Zenith, Maiti Rama, Mitchell Joseph, Rezaie Tayebeh, Riley George, Song Guangfeng, Yang Jinpeng, Ziyabari Lora, Russette Andrew, Kattman Brandi L

Abstract excerpt

ClinVar (www.ncbi.nlm.nih.gov/clinvar/) is a free, public database of human genetic variants and their relationships to disease, with >3 million variants submitted by >2800 organizations across the world. The database was recently updated to have three types of classifications: germline, oncogenicity and clinical impact for somatic variants. As for germline variants, classifications for somatic variants can be...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cancer Genomics and Diagnostics
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome, Human

Share to Genomics

Share to Germ-Line Mutation

Share to Neoplasms

Share to Software

Source

Open in PubMed Open full text

Identifiers

PMID: 39578691
DOI: 10.1093/nar/gkae1090
PMCID: PMC11701624

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ClinVar: updates to support classifications of both germline and somatic variants.PMID 39578691Read ↗

ClinVar: public archive of interpretations of clinically relevant variants.Semantic proximity Read ↗

ClinVar Database Evolution and Impact on Potential Pathogenic Germline Variant Reporting from Tumor Comprehensive Genomic Profiling.Semantic proximity Read ↗

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert PanelSemantic proximity Read ↗

Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions.Semantic proximity Read ↗

ClinVar: improving access to variant interpretations and supporting evidence.Semantic proximity Read ↗

ClinVar: improvements to accessing data.Semantic proximity Read ↗

Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.Semantic proximity Read ↗

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.Semantic proximity Read ↗

ClinGen Variant Curation Interface: A Variant Classification Platform for the Application of Evidence Criteria from ACMG/AMP GuidelinesSemantic proximity Read ↗

AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classificationSemantic proximity Read ↗

Automating ACMG Variant Classifications With BIAS-2015 v2.0.0: Algorithm Analysis and Benchmark Against the FDA-Approved eRepo DatasetSemantic proximity Read ↗

ClinGen <i>CDH1</i> specifications for the ACMG/AMP guidelines: improvement of germline variant clinical assertions and updated curation guidelinesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.