Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.

doi:10.1016/j.ymgme.2023.107715

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Article

Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.

Molecular genetics and metabolism - 1 Jan 2000

Goldstein Jennifer L, McGlaughon Jennifer, Kanavy Dona, Goomber Shelly, Pan Yinghong, Deml Brett, Donti Taraka, Kearns Liz, Seifert Bryce A, Schachter Miriam, Son Rachel G, Thaxton Courtney, Udani Rupa, Bali Deeksha, Baudet Heather, Caggana Michele, Hung Christina, Kyriakopoulou Lianna, Rosenblum Lynne, Steiner Robert, Pinto E Vairo Filippo, Wang Yang, Watson Michael, Fernandez Raquel, Weaver Meredith, Clarke Lorne, Rehder Catherine

Abstract excerpt

Accurate determination of the clinical significance of genetic variants is critical to the integration of genomics in medicine. To facilitate this process, the NIH-funded Clinical Genome Resource (ClinGen) has assembled Variant Curation Expert Panels (VCEPs), groups of experts and biocurators which provide gene- and disease- specifications to the American College of Medical Genetics & Genomics and Association for...

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PMID: 37907381
DOI: 10.1016/j.ymgme.2023.107715
PMCID: PMC10872922

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