ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3933C>G (p.Leu1311=)

gnomAD frequency: 0.00003  dbSNP: rs372081879
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000954350 SCV001100978 likely benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2023-06-05 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001726383 SCV001961781 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing

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