Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000562007 | SCV000673304 | likely benign | Hereditary cancer-predisposing syndrome | 2023-03-09 | 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. |
Gene |
RCV000231256 | SCV000721214 | likely benign | not provided | 2019-03-19 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000666029 | SCV000790262 | uncertain significance | Fanconi anemia complementation group C | 2017-03-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001467053 | SCV001671070 | likely benign | Fanconi anemia | 2022-08-25 | criteria provided, single submitter | clinical testing |