Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193140 | SCV000248175 | likely benign | not specified | 2015-07-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317699 | SCV000850283 | benign | Inborn genetic diseases | 2016-10-28 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Invitae | RCV000878906 | SCV001021897 | benign | Nance-Horan syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing |