Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164394 | SCV000215030 | likely benign | Hereditary cancer-predisposing syndrome | 2014-06-23 | 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. |
Gene |
RCV000430255 | SCV000516842 | benign | not specified | 2015-08-25 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV000456991 | SCV000558420 | likely benign | Ataxia-telangiectasia syndrome | 2024-01-09 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000164394 | SCV001340518 | likely benign | Hereditary cancer-predisposing syndrome | 2017-10-26 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000430255 | SCV001821242 | likely benign | not specified | 2021-08-13 | criteria provided, single submitter | clinical testing | |
National Health Laboratory Service, |
RCV002225481 | SCV002504711 | likely benign | Hereditary breast ovarian cancer syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000164394 | SCV002529040 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-01 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003316021 | SCV004015411 | benign | Familial cancer of breast | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003316021 | SCV005082755 | benign | Familial cancer of breast | 2024-05-16 | 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. |