ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.5253C>T (p.Asn1751=)

gnomAD frequency: 0.00171  dbSNP: rs57181695
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000535272 SCV000632191 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002483389 SCV002796835 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-10-14 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003392375 SCV004133664 benign not provided 2022-09-01 criteria provided, single submitter clinical testing CACNA1H: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003915512 SCV004733593 likely benign CACNA1H-related condition 2019-10-11 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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