ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.1966C>T (p.Pro656Ser)

dbSNP: rs59079584
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084466 SCV000632096 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2024-01-30 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711070 SCV000841397 benign not provided 2017-12-06 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711070 SCV005296417 benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV004537924 SCV004746079 benign CACNA1H-related disorder 2019-04-17 no assertion criteria provided 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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