Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000213489 | SCV000273741 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-30 | 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. |
Labcorp Genetics |
RCV000231194 | SCV000282965 | likely benign | Ataxia-telangiectasia syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000213489 | SCV000537446 | likely benign | Hereditary cancer-predisposing syndrome | 2015-10-30 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589417 | SCV000694288 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001712000 | SCV001945527 | benign | not provided | 2015-08-15 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV004589929 | SCV005084793 | benign | Familial cancer of breast | 2024-05-20 | 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. |
Natera, |
RCV000231194 | SCV002083016 | likely benign | Ataxia-telangiectasia syndrome | 2020-10-05 | no assertion criteria provided | clinical testing |