ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5840C>T (p.Pro1947Leu)

gnomAD frequency: 0.00605  dbSNP: rs59935412
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082534 SCV000632205 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711118 SCV000841446 benign not provided 2018-01-26 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711118 SCV005294998 benign not provided criteria provided, single submitter not provided

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