Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000220343 | SCV000277839 | likely benign | Hereditary cancer-predisposing syndrome | 2015-08-10 | 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. |
Gene |
RCV000427809 | SCV000515459 | likely benign | not specified | 2017-10-13 | 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. |
Invitae | RCV001087353 | SCV000625345 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679303 | SCV000806023 | likely benign | not provided | 2017-10-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000220343 | SCV001358452 | likely benign | Hereditary cancer-predisposing syndrome | 2019-05-07 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000427809 | SCV001437215 | likely benign | not specified | 2020-09-28 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679303 | SCV001469809 | likely benign | not provided | 2019-12-06 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003998558 | SCV004827772 | likely benign | Lynch syndrome | 2023-04-03 | criteria provided, single submitter | clinical testing |