ClinVar Miner

Submissions for variant NM_001365999.1(SZT2):c.7613G>A (p.Cys2538Tyr)

dbSNP: rs1553153691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV000590899 SCV000700084 uncertain significance not specified 2016-09-05 criteria provided, single submitter clinical testing
OMIM RCV001292590 SCV001481164 pathogenic Developmental and epileptic encephalopathy, 18 2021-02-19 no assertion criteria provided literature only

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