Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001407919 | SCV001609905 | likely benign | Familial melanoma | 2024-03-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002377631 | SCV002684247 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-01 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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. |
Myriad Genetics, |
RCV004789577 | SCV005405693 | benign | Melanoma, cutaneous malignant, susceptibility to, 3 | 2024-09-27 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing. |
Gene |
RCV005057371 | SCV005689963 | uncertain significance | not provided | 2024-08-07 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); 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. |