ClinVar Miner

Submissions for variant NM_001353921.2(ARHGEF9):c.740del (p.Leu246_Leu247insTer)

dbSNP: rs2050407403
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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 RCV001253710 SCV001429560 uncertain significance Developmental and epileptic encephalopathy, 8 2017-03-13 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed).

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