ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=)

gnomAD frequency: 0.00014  dbSNP: rs368201539
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000878162 SCV001021022 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-05-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454055 SCV002739621 likely benign Inborn genetic diseases 2019-11-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Fulgent Genetics, Fulgent Genetics RCV002501352 SCV002808284 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-02-12 criteria provided, single submitter clinical testing

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