ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6937CAG[4] (p.Gln2317_Gln2325del)

dbSNP: rs16054
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262313 SCV001440132 likely benign Developmental and epileptic encephalopathy, 42 2019-01-01 criteria provided, single submitter clinical testing
GeneDx RCV001535168 SCV001752159 benign not provided 2021-06-02 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001535168 SCV002498430 benign not provided 2024-07-01 criteria provided, single submitter clinical testing CACNA1A: BS1, BS2
PreventionGenetics, part of Exact Sciences RCV003985488 SCV004789784 benign CACNA1A-related disorder 2019-09-10 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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