ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1410C>T (p.Asn470=)

gnomAD frequency: 0.00001  dbSNP: rs886043068
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000403878 SCV000338252 uncertain significance not provided 2015-12-17 criteria provided, single submitter clinical testing
Invitae RCV001089130 SCV001098990 likely benign Glycogen storage disease, type II 2024-01-04 criteria provided, single submitter clinical testing
GeneDx RCV000403878 SCV001758451 likely benign not provided 2020-09-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001089130 SCV001810601 uncertain significance Glycogen storage disease, type II 2021-07-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392802 SCV002701757 likely benign Cardiovascular phenotype 2020-08-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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. RCV001089130 SCV002092026 likely benign Glycogen storage disease, type II 2020-11-17 no assertion criteria provided clinical testing

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