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

gnomAD frequency: 0.01732  dbSNP: rs78558135

Total submissions: 6

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