Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hacettepe Genetic Diseases Diagnosis Center, |
RCV000778115 | SCV000854570 | likely pathogenic | 3M syndrome 1 | 2014-03-14 | no assertion criteria provided | clinical testing | The p.Trp494Ter variant in CUL7 has been observed in a 13 year-old-Turkish female 3-M syndrome patient. There was parental consanguinity and autosomal recessive inheritance pattern matching for this variant. In summary, the p.Trp494Ter variant meets our criteria to be classified as likely pathogenic. |