ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3189C>T (p.Asn1063=)

gnomAD frequency: 0.00768  dbSNP: rs61394370
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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 RCV001084467 SCV000756494 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-24 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711086 SCV000841413 benign not provided 2018-06-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711086 SCV005296446 benign not provided criteria provided, single submitter not provided

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