ClinVar Miner

Submissions for variant NM_025000.4(DCAF17):c.732+70del

dbSNP: rs58636477
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001679715 SCV001898434 benign not provided 2020-11-20 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464482 SCV002605319 uncertain significance Woodhouse-Sakati syndrome criteria provided, single submitter research Mutations in DCAF17 have been associated with a rare syndrome called Woodhouse Sakati Syndrome, which can have diabetes mellitus as one of the presentations.However no sufficient evidence is found to ascertain the role of this particular variant rs58636477, yet.
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV004598095 SCV005091650 benign not specified 2024-07-31 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 46% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 43. Only high quality variants are reported.

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