Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hacettepe Genetic Diseases Diagnosis Center, |
RCV000778120 | SCV000854637 | likely pathogenic | 3M syndrome 1 | 2016-10-07 | no assertion criteria provided | clinical testing | A 22 year-old-Turkish female 3-M syndrome patient was compound heterozygous with c.4115delA (p.Glu1372Glyfs*37) and c.3089delC (p.Pro1030Leufs*111) variants in CUL7. There was parental consanguinity. Patient presented the characteristic features of 3-M syndrome. Both c.4115delA (p.Glu1372Glyfs*37) and c.3089delC (p.Pro1030Leufs*111) variants meet our criteria to be classified as likely pathogenic. |