ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6937CAG[18] (p.Gln2325_Ala2326insGlnGlnGlnGlnGln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003885074 SCV004700050 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing CACNA1A: BS1
PreventionGenetics, part of Exact Sciences RCV003985640 SCV004727858 likely benign CACNA1A-related disorder 2021-08-30 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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