ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.345dup (p.Lys116fs)

dbSNP: rs2040365404
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252618 SCV001428378 pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2019-01-01 no assertion criteria provided clinical testing

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