ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3737C>G (p.Ser1246Trp)

dbSNP: rs571145188
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635022 SCV000756400 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492966 SCV002782081 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-05-15 criteria provided, single submitter clinical testing
GenomeConnect - Invitae Patient Insights Network RCV000635022 SCV004228765 not provided Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 11-27-2020 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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