ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.685-9C>T

dbSNP: rs1824696243
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001185665 SCV001351917 likely benign Cardiomyopathy 2019-09-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003617909 SCV004446141 likely benign Lethal congenital glycogen storage disease of heart 2023-08-02 criteria provided, single submitter clinical testing

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