ClinVar Miner

Submissions for variant NM_001379403.1(WDR26):c.390_412del (p.Leu132fs)

dbSNP: rs2102930594
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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 RCV001785354 SCV002026363 pathogenic Skraban-Deardorff syndrome 2021-11-03 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PS2, PM2_SUP, PP4

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