Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Foundation for Research in Genetics and Endocrinology, |
RCV000495977 | SCV000583510 | likely pathogenic | X-linked Alport syndrome | 2016-10-04 | no assertion criteria provided | clinical testing | The observed variant is not reported in 1000 genomse and ExAC databases. The in silico prediction of the variant is disease causing by Mutation Taster2. Patient, born of a non-consanguineous marriage, was suspected to be affected with Alport syndrome. His serum creatinine was found to be 1.36. |