ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5133+10G>A

gnomAD frequency: 0.00029  dbSNP: rs369033909
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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) RCV000725222 SCV000335113 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing
GeneDx RCV000333600 SCV000524727 likely benign not specified 2017-12-04 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001080437 SCV000656770 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-29 criteria provided, single submitter clinical testing

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