Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495367 | SCV000578253 | 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/). |
Ambry Genetics | RCV000164715 | SCV000215385 | likely benign | Hereditary cancer-predisposing syndrome | 2014-06-17 | 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. |
Color Diagnostics, |
RCV000164715 | SCV000683043 | likely benign | Hereditary cancer-predisposing syndrome | 2017-01-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079060 | SCV000759413 | likely benign | Hereditary breast ovarian cancer syndrome | 2023-10-22 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769716 | SCV000901136 | likely benign | Breast and/or ovarian cancer | 2022-10-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000656634 | SCV001863601 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000656634 | SCV000778754 | likely benign | not provided | 2017-12-01 | no assertion criteria provided | clinical testing |