ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) (rs372812865)

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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 RCV000517640 SCV000612575 benign not specified 2016-12-20 criteria provided, single submitter clinical testing
GeneDx RCV000831711 SCV000973464 likely benign not provided 2021-04-27 criteria provided, single submitter clinical testing
Invitae RCV001088434 SCV001095451 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-11-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000831711 SCV001501691 likely benign not provided 2020-11-01 criteria provided, single submitter clinical testing

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