Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000536674 | SCV000655128 | likely benign | Tumor predisposition syndrome 3 | 2023-12-05 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001010211 | SCV001170370 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-04 | 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 |
RCV001764619 | SCV002000315 | uncertain significance | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown. |