ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6937CAG[16] (p.Gln2325_Ala2326insGlnGlnGln)

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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 RCV002292980 SCV002585707 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing CACNA1A: BS1
GeneDx RCV002292980 SCV005325510 uncertain significance not provided 2024-01-16 criteria provided, single submitter clinical testing Reported using an alternate transcript of the gene; Not observed at significant frequency in large population cohorts (gnomAD); In-frame duplication of 3 amino acids in a repetitive region with no known function; Has not been previously published as pathogenic or benign to our knowledge

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