Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Evidence- |
RCV000495313 | SCV000578731 | likely benign | Breast-ovarian cancer, familial, susceptibility to, 2 | 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 |
RCV000123953 | SCV000167344 | benign | not specified | 2013-10-18 | 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 | RCV000163556 | SCV000214114 | likely benign | Hereditary cancer-predisposing syndrome | 2014-08-04 | 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. |
Invitae | RCV001086442 | SCV000253003 | benign | Hereditary breast ovarian cancer syndrome | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000513645 | SCV000608677 | likely benign | not provided | 2020-09-01 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163556 | SCV000683486 | benign | Hereditary cancer-predisposing syndrome | 2016-09-16 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000513645 | SCV000887777 | likely benign | not provided | 2023-03-31 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000123953 | SCV000919014 | likely benign | not specified | 2020-11-08 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000513645 | SCV003799572 | likely benign | not provided | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003945118 | SCV004759194 | likely benign | BRCA2-related condition | 2019-11-04 | 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). |