ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.201C>T (p.Phe67=)

gnomAD frequency: 0.00002  dbSNP: rs759893229
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000774161 SCV000907862 likely benign Cardiomyopathy 2018-10-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002534121 SCV003494517 likely benign Lethal congenital glycogen storage disease of heart 2022-05-29 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001356 SCV004842324 likely benign Hypertrophic cardiomyopathy 2023-12-18 criteria provided, single submitter clinical testing

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