ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1663G>A (p.Ala555Thr)

gnomAD frequency: 0.00001  dbSNP: rs1056058034
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000711059 SCV000841386 uncertain significance not provided 2018-06-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001371140 SCV001567697 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-05 criteria provided, single submitter clinical testing

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