ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1030G>A (p.Gly344Ser)

dbSNP: rs2041376679
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV001252620 SCV004037171 likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency criteria provided, single submitter not provided
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252620 SCV001428380 likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2019-01-01 no assertion criteria provided clinical testing

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