ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.117C>T (p.Asp39=)

gnomAD frequency: 0.00001  dbSNP: rs1220899353
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001433625 SCV001636416 likely benign Lethal congenital glycogen storage disease of heart 2024-12-15 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004006992 SCV004843598 likely benign Hypertrophic cardiomyopathy 2023-10-23 criteria provided, single submitter clinical testing

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