ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.974C>T (p.Pro325Leu)

gnomAD frequency: 0.00001  dbSNP: rs375274586
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001334122 SCV001526868 uncertain significance Epilepsy, childhood absence, susceptibility to, 6 2018-02-12 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV002546669 SCV003474870 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-01 criteria provided, single submitter clinical testing

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