ClinVar Miner

Submissions for variant NM_001127221.1(CACNA1A):c.3534C>A (p.Pro1178=) (rs184723350)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000374998 SCV000612533 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725282 SCV000335681 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000374998 SCV000525243 likely benign not specified 2017-11-06 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 RCV000537037 SCV000656754 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2017-07-27 criteria provided, single submitter clinical testing

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