ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.2202C>A (p.Asn734Lys)

dbSNP: rs2057768031
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262152 SCV001439920 benign Developmental and epileptic encephalopathy, 42 2019-01-01 criteria provided, single submitter clinical testing

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