Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495432 | SCV000578379 | 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/). |
Invitae | RCV001088701 | SCV000635964 | likely benign | Hereditary breast ovarian cancer syndrome | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000563100 | SCV000665341 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-29 | 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759539 | SCV000888918 | likely benign | not provided | 2018-07-18 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780987 | SCV000918715 | likely benign | not specified | 2019-08-21 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000780987 | SCV001158960 | likely benign | not specified | 2019-04-16 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000563100 | SCV001352666 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003902743 | SCV004719711 | likely benign | BRCA1-related condition | 2020-07-30 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |