Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000212112 | SCV000209816 | benign | not specified | 2014-07-07 | 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. |
Ambry Genetics | RCV000159793 | SCV000214236 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-12 | 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 |
RCV001085460 | SCV000259628 | benign | Familial cancer of breast | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000159793 | SCV000682783 | likely benign | Hereditary cancer-predisposing syndrome | 2016-01-06 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477570 | SCV000887592 | benign | not provided | 2023-09-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000212112 | SCV001437366 | likely benign | not specified | 2020-09-25 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000212112 | SCV002067948 | likely benign | not specified | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000159793 | SCV002529614 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-10 | criteria provided, single submitter | curation | |
Myriad Genetics, |
RCV001085460 | SCV005405367 | benign | Familial cancer of breast | 2024-07-19 | 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. |