ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.2195A>C (p.Glu732Ala) (rs16019)

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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 RCV000715991 SCV000846824 benign History of neurodevelopmental disorder 2016-02-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Subpopulation frequency in support of benign classification
GeneDx RCV000116517 SCV000522787 benign not specified 2016-05-24 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.
Genetic Services Laboratory, University of Chicago RCV000116517 SCV000150466 likely benign not specified no assertion criteria provided clinical testing Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Invitae RCV000555117 SCV000656724 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2018-01-27 criteria provided, single submitter clinical testing

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