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

Updated recommendation for the benign stand‐alone ACMG/AMP criterion

11 Oct 2018

Abstract excerpt

The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working Group set out to refine the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG/AMP) variant pathogenicity recommendations for stand-alone rule BA1 (a variant with minor allele frequency [MAF] > 0.05 is benign), by clarifying how it should be used and specifying a set of variants that...

Read the complete abstract on PubMed

Topics

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

Share to Genetic factors in colorectal cancer
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30311383
DOI: 10.1002/humu.23642

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Updated recommendation for the benign stand‐alone ACMG/AMP criterionPMID 30311383Read ↗

Stepwise ABC system for classification of any type of genetic variant.Semantic proximity Read ↗

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Semantic proximity Read ↗

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Semantic proximity Read ↗

Evaluation of <i>in silico</i> algorithms for use with ACMG/AMP clinical variant interpretation guidelinesSemantic proximity Read ↗

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.Semantic proximity Read ↗

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation frameworkSemantic proximity Read ↗

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.Semantic proximity Read ↗

Automating ACMG Variant Classifications Using BIAS-2015: An Algorithm Overview and Benchmark Against the FDA-Approved eRepo DatasetSemantic 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 ↗

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.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 ↗

Specification of frequency criteria for secondary findings genes to improve variant classification concordanceSemantic proximity Read ↗

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