ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.1626G>A (p.Gly542=) (rs375628894)

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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 RCV000718154 SCV000849016 likely benign History of neurodevelopmental disorder 2017-02-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723660 SCV000111355 uncertain significance not provided 2013-08-12 criteria provided, single submitter clinical testing
GeneDx RCV000079476 SCV000525901 likely benign not specified 2017-05-25 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 RCV000528424 SCV000656716 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-12-13 criteria provided, single submitter clinical testing

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