Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175998 | SCV000227578 | likely benign | not specified | 2014-06-12 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000175998 | SCV000596612 | benign | not specified | 2017-08-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002317019 | SCV000849560 | benign | Inborn genetic diseases | 2017-03-30 | 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 | RCV000888781 | SCV001032434 | benign | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000888781 | SCV001914214 | benign | not provided | 2019-04-16 | criteria provided, single submitter | clinical testing |