ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.6324C>T (p.Ala2108=)

gnomAD frequency: 0.00041  dbSNP: rs57670193
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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 RCV001507200 SCV000632218 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-19 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711127 SCV000841455 benign not provided 2018-01-23 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711127 SCV005296942 benign not provided criteria provided, single submitter not provided

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