Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000164104 | SCV000214717 | likely benign | Hereditary cancer-predisposing syndrome | 2018-09-29 | 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. |
Invitae | RCV000228366 | SCV000283814 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-27 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000164104 | SCV000685433 | likely benign | Hereditary cancer-predisposing syndrome | 2016-04-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001567258 | SCV001790910 | likely benign | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535092 | SCV004748434 | likely benign | MSH6-related disorder | 2023-07-18 | 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). |
All of Us Research Program, |
RCV003995314 | SCV004835118 | likely benign | Lynch syndrome | 2023-11-20 | criteria provided, single submitter | clinical testing |