ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3698A>T (p.Asp1233Val)

gnomAD frequency: 0.00001  dbSNP: rs774604155
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000516852 SCV000612580 uncertain significance not specified 2017-06-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003766910 SCV004575446 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-04-17 criteria provided, single submitter clinical testing
GeneDx RCV004767319 SCV005376152 uncertain significance not provided 2023-12-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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