ClinVar Miner

Submissions for variant NM_001080517.3(SETD5):c.4159C>T (p.Arg1387Trp)

gnomAD frequency: 0.00003  dbSNP: rs560529972
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001531557 SCV001746751 uncertain significance not provided 2021-04-01 criteria provided, single submitter clinical testing
Genetics and Molecular Pathology, SA Pathology RCV002272477 SCV002556403 uncertain significance Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency 2021-03-24 criteria provided, single submitter clinical testing

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