ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) (rs745609731)

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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 RCV000516244 SCV000612568 benign not specified 2017-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000996775 SCV000716608 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000996775 SCV001151691 likely benign not provided 2020-09-01 criteria provided, single submitter clinical testing
Invitae RCV001504550 SCV001709433 likely benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-10-24 criteria provided, single submitter clinical testing

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