ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.1028dup (p.Gly344fs)

dbSNP: rs2125194140
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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, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV001843880 SCV002103075 pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2022-01-26 criteria provided, single submitter clinical testing PVS1, PM2, PM6

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