Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000878196 | SCV001021060 | benign | Noonan syndrome | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193591 | SCV001362521 | benign | not specified | 2019-10-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001720267 | SCV001947273 | benign | not provided | 2021-02-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002346039 | SCV002651037 | likely benign | Inborn genetic diseases | 2022-05-30 | 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. |
Ce |
RCV001720267 | SCV004140444 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | RRAS: BP4, BP7, BS2 |