ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.750C>T (p.Thr250=)

dbSNP: rs2143846283
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001500553 SCV001705344 likely benign Glycogen storage disease, type II 2025-01-22 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001500553 SCV001786769 uncertain significance Glycogen storage disease, type II 2021-07-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004995914 SCV005591986 likely benign Cardiovascular phenotype 2024-07-17 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.

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