ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) (rs749587119)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000710977 SCV000706587 uncertain significance not provided 2017-03-08 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710977 SCV000841293 likely benign not provided 2017-11-20 criteria provided, single submitter clinical testing
Invitae RCV001439451 SCV001642337 likely benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-09-19 criteria provided, single submitter clinical testing

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