ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2967C>T (p.Ser989=)

gnomAD frequency: 0.00320  dbSNP: rs59090452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084276 SCV000632116 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-29 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000711083 SCV000841410 benign not provided 2017-12-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000711083 SCV004133640 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing CACNA1H: BP4, BP7, BS2
PreventionGenetics, part of Exact Sciences RCV003915509 SCV004734539 benign CACNA1H-related condition 2019-08-30 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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