ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5608G>A (p.Ala1870Thr)

gnomAD frequency: 0.00006  dbSNP: rs375010790
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001431906 SCV001634668 likely benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-04-22 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000579108 SCV000681395 not provided CACNA1H-related disorder no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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