ClinVar Miner

Submissions for variant NM_016203.4(PRKAG2):c.1051+20T>C

gnomAD frequency: 0.00006  dbSNP: rs748641955
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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 RCV002171050 SCV002429168 likely benign Lethal congenital glycogen storage disease of heart 2024-08-04 criteria provided, single submitter clinical testing
Cohesion Phenomics RCV003126169 SCV003803641 likely benign Hypertrophic cardiomyopathy 2022-10-10 no assertion criteria provided clinical testing

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