ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1689del (p.Glu564fs)

dbSNP: rs2125273254
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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 RCV001785355 SCV002026364 pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 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_MOD, PM2_SUP

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