Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495392 | SCV000578333 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2017-06-29 | reviewed by expert panel | curation | Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/). |
Gene |
RCV000159873 | SCV000209933 | benign | not specified | 2014-09-15 | 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 | RCV000167406 | SCV000218261 | likely benign | Hereditary cancer-predisposing syndrome | 2014-12-17 | 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. |
Eurofins Ntd Llc |
RCV000724275 | SCV000224995 | uncertain significance | not provided | 2014-09-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001086782 | SCV000253496 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000167406 | SCV000682992 | likely benign | Hereditary cancer-predisposing syndrome | 2016-08-13 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000724275 | SCV000888854 | likely benign | not provided | 2022-07-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000159873 | SCV000916762 | likely benign | not specified | 2020-12-17 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000167406 | SCV002538058 | likely benign | Hereditary cancer-predisposing syndrome | 2021-11-22 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV000495392 | SCV004016782 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 1 | 2023-07-07 | criteria provided, single submitter | clinical testing |