ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) (rs374664760)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000312001 SCV000335674 benign not specified 2015-09-28 criteria provided, single submitter clinical testing
GeneDx RCV000312001 SCV000525242 likely benign not specified 2017-10-12 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 RCV000560013 SCV000656727 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-11-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718169 SCV000849031 benign History of neurodevelopmental disorder 2017-01-21 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Athena Diagnostics Inc RCV000312001 SCV001475637 benign not specified 2020-05-11 criteria provided, single submitter clinical testing

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