ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4584C>T (p.Asn1528=)

gnomAD frequency: 0.00072  dbSNP: rs200542719
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001080756 SCV001020701 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000877892 SCV001143479 benign not provided 2018-11-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501350 SCV002807920 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-10-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000877892 SCV004133658 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing CACNA1H: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003948262 SCV004773861 likely benign CACNA1H-related condition 2021-05-13 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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