Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hacettepe Genetic Diseases Diagnosis Center, |
RCV000778117 | SCV000854652 | likely pathogenic | 3M syndrome 1 | 2015-01-04 | no assertion criteria provided | clinical testing | A 9 year-old-Turkish female 3-M syndrome patient was homozygous for g.8487_8497delTCAAAGGTCAG variant in OBSL1. There was parental consanguinity. Patient presented the characteristic features of 3-M syndrome. The g.8487_8497delTCAAAGGTCAG variant presents in ExAC (Exome Aggregation Consortium) database as c.1277_1282+5delTCAAAGGTCAG with 1 heterozygous carrier. This variant meets our criteria to be classified as likely pathogenic. |