ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.5655C>T (p.Val1885=) (rs17846921)

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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 RCV000720734 SCV000851615 likely benign History of neurodevelopmental disorder 2017-03-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725399 SCV000336663 uncertain significance not provided 2015-10-29 criteria provided, single submitter clinical testing
GeneDx RCV000395647 SCV000726123 likely benign not specified 2017-12-28 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 RCV000653349 SCV000775228 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-12-07 criteria provided, single submitter clinical testing

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