Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000082797 | SCV000114845 | benign | not specified | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082797 | SCV000248171 | benign | not specified | 2014-09-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082797 | SCV000316925 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV000550294 | SCV000636702 | benign | Nance-Horan syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002311745 | SCV000846778 | benign | Inborn genetic diseases | 2016-03-25 | 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. |