ClinVar Miner

Submissions for variant NM_203446.3(SYNJ1):c.1157G>T (p.Cys386Phe)

dbSNP: rs2041732521
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Section for Clinical Neurogenetics, University of Tübingen RCV001030790 SCV001156108 uncertain significance Developmental and epileptic encephalopathy, 53 2019-08-01 no assertion criteria provided research

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