ClinVar Miner

Submissions for variant NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser)

gnomAD frequency: 0.01732  dbSNP: rs78558135
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000244701 SCV000309246 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000353747 SCV000386911 likely benign Glycogen storage disease, type VI 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000353747 SCV000752196 benign Glycogen storage disease, type VI 2024-01-23 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000353747 SCV003799918 benign Glycogen storage disease, type VI 2022-07-08 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000675360 SCV005212038 likely benign not provided criteria provided, single submitter not provided
Mayo Clinic Laboratories, Mayo Clinic RCV000675360 SCV000801026 benign not provided 2017-05-24 no assertion criteria provided clinical testing

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