ClinVar Miner

Submissions for variant NM_000152.5(GAA):c.1275G>A (p.Pro425=)

gnomAD frequency: 0.00002  dbSNP: rs762826072
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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 RCV000821247 SCV000962000 likely benign Glycogen storage disease, type II 2024-12-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372343 SCV002686656 likely benign Cardiovascular phenotype 2019-06-09 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. RCV000821247 SCV002092006 uncertain significance Glycogen storage disease, type II 2021-03-22 no assertion criteria provided clinical testing

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