ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.5653G>A (p.Val1885Ile) (rs201836062)

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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 RCV000718825 SCV000849689 likely benign History of neurodevelopmental disorder 2017-06-01 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)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726584 SCV000701646 uncertain significance not provided 2017-07-25 criteria provided, single submitter clinical testing
GeneDx RCV000429723 SCV000524685 likely benign not specified 2018-02-23 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 RCV000653373 SCV000775252 likely benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-09-08 criteria provided, single submitter clinical testing

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