ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) (rs374749004)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000723917 SCV000227641 uncertain significance not provided 2014-05-19 criteria provided, single submitter clinical testing
GeneDx RCV000723917 SCV000532260 benign not provided 2019-08-19 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000176048 SCV000612528 benign not specified 2017-04-25 criteria provided, single submitter clinical testing
Invitae RCV001080024 SCV001058105 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-11-17 criteria provided, single submitter clinical testing

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