ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.489G>A (p.Pro163=)

gnomAD frequency: 0.00004  dbSNP: rs556852534
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001697532 SCV000718338 likely benign not provided 2021-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617327 SCV000740095 likely benign Cardiovascular phenotype 2016-12-15 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.
Color Diagnostics, LLC DBA Color Health RCV001189669 SCV001357005 likely benign Cardiomyopathy 2019-04-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001423738 SCV001626320 likely benign Lethal congenital glycogen storage disease of heart 2023-09-26 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004002508 SCV004842286 likely benign Hypertrophic cardiomyopathy 2023-12-13 criteria provided, single submitter clinical testing

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