ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4591-9C>G (rs16032)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001700178 SCV000529629 benign not provided 2021-03-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000433533 SCV000612546 benign not specified 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV000532831 SCV000656765 benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-11-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001700178 SCV001927048 likely benign not provided no assertion criteria provided clinical testing

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