ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4386C>T (p.Pro1462=)

gnomAD frequency: 0.00043  dbSNP: rs142856193
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000946106 SCV001092204 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-12-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716635 SCV005294979 benign not provided criteria provided, single submitter not provided

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