ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2172+9G>A

gnomAD frequency: 0.00007  dbSNP: rs368353124
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613532 SCV000719494 likely benign not specified 2017-05-19 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
CeGaT Center for Human Genetics Tuebingen RCV000937588 SCV001501688 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CACNA1A: BP4, BP7
Invitae RCV001495779 SCV001700468 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-07-19 criteria provided, single submitter clinical testing

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