Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Medical Genetics Clinic, |
RCV000515790 | SCV000611726 | likely pathogenic | Congenital contractural arachnodactyly | 2017-11-28 | criteria provided, single submitter | provider interpretation | According to Standards and guidelines for the interpretation of sequence results by ACMG (Richards S and Committee 2015) the variant is classified as likely pathogenic [(ii) and (iii); (PS2, PM2, PP2, PP3, PP4)]. |