ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4089+5_4089+6del (rs368911651)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000838214 SCV000980078 likely benign not provided 2018-06-01 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.
Invitae RCV001079920 SCV001107837 likely benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-10-21 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001288843 SCV001476229 benign not specified 2020-05-22 criteria provided, single submitter clinical testing

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