ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.865-14del

dbSNP: rs750383082
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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 RCV001189771 SCV001357130 likely benign Cardiomyopathy 2018-12-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003507363 SCV004267691 likely benign Lethal congenital glycogen storage disease of heart 2023-02-20 criteria provided, single submitter clinical testing

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