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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp 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
Breakthrough Genomics, Breakthrough Genomics RCV001551050 SCV005216856 likely benign not provided criteria provided, single submitter not provided
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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