ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr)

gnomAD frequency: 0.01351  dbSNP: rs59650398
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000556714 SCV000632250 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001551050 SCV001771475 likely benign not provided 2020-07-09 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000845043 SCV000986881 not provided Epilepsy, childhood absence, susceptibility to, 6 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 09/25/2014 by GTR ID 320384. 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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