ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=)

dbSNP: rs886044439
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000320967 SCV000344940 uncertain significance not provided 2016-08-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001458213 SCV001662030 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-02-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003985320 SCV004761674 likely benign CACNA1A-related disorder 2021-11-05 no assertion criteria provided 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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