ClinVar Miner

Submissions for variant NM_014780.5(CUL7):c.3173-1G>C

dbSNP: rs864309521
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Medical Genetics, University of Parma RCV000202615 SCV000257454 pathogenic 3M syndrome 1 2015-12-17 no assertion criteria provided clinical testing Variant predicted to result in the loss of protein function (splice junction mutation at position -1) not previously reported in patients with disease. Variant detected in two affected sisters.

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