ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=) (rs373678557)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000710964 SCV000529918 likely benign not provided 2021-05-07 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710964 SCV000841280 benign not provided 2017-11-01 criteria provided, single submitter clinical testing
Invitae RCV001478327 SCV001682595 likely benign Episodic ataxia type 2; Epileptic encephalopathy, early infantile, 42 2020-08-02 criteria provided, single submitter clinical testing

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