Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000466309 | SCV000521484 | benign | not provided | 2018-06-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000466309 | SCV000563264 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV002298586 | SCV002598758 | benign | not specified | 2022-09-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002461145 | SCV002756041 | likely benign | Inborn genetic diseases | 2022-05-11 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |
Natera, |
RCV001828408 | SCV002082070 | likely benign | Familial dysautonomia | 2018-04-19 | no assertion criteria provided | clinical testing |