ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.2418G>A (p.Thr806=)

gnomAD frequency: 0.00005  dbSNP: rs371528938
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000371750 SCV000338887 uncertain significance not provided 2016-01-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001088707 SCV001020295 likely benign Glycogen storage disease, type II 2024-01-16 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001088707 SCV001810194 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004021184 SCV005032759 likely benign Cardiovascular phenotype 2023-11-01 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Natera, Inc. RCV001088707 SCV002092138 likely benign Glycogen storage disease, type II 2020-09-23 no assertion criteria provided clinical testing

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