ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.1917-4G>A (rs191026552)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717250 SCV000848099 likely benign History of neurodevelopmental disorder 2017-12-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Subpopulation frequency in support of benign classification,In silico models in agreement (benign)
GeneDx RCV000244311 SCV000525566 likely benign not specified 2017-08-09 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 RCV000653358 SCV000775237 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-10-19 criteria provided, single submitter clinical testing
PreventionGenetics RCV000244311 SCV000306690 likely benign not specified criteria provided, single submitter clinical testing

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