Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000869982 | SCV001011447 | likely benign | not provided | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002462204 | SCV002756272 | likely benign | Inborn genetic diseases | 2022-07-11 | 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. |
Fulgent Genetics, |
RCV002495292 | SCV002799061 | likely benign | Medulloblastoma; Familial dysautonomia | 2021-07-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001271218 | SCV001452220 | likely benign | Familial dysautonomia | 2020-06-01 | no assertion criteria provided | clinical testing |