ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.6705C>T (p.His2235=)

gnomAD frequency: 0.00001  dbSNP: rs1376732755
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001392707 SCV001594356 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2018-04-19 criteria provided, single submitter clinical testing
GeneDx RCV003320772 SCV004025561 likely benign not provided 2018-11-27 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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