Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000163735 | SCV000214310 | likely benign | Hereditary cancer-predisposing syndrome | 2015-06-03 | 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 |
RCV000434528 | SCV000524445 | likely benign | not specified | 2016-08-23 | 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 | RCV000463895 | SCV000559228 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-31 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000986678 | SCV001135743 | likely benign | Lynch syndrome 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000163735 | SCV001343692 | likely benign | Hereditary cancer-predisposing syndrome | 2018-10-24 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001812141 | SCV002047690 | likely benign | not provided | 2020-10-15 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000163735 | SCV002534402 | likely benign | Hereditary cancer-predisposing syndrome | 2020-11-04 | criteria provided, single submitter | curation | |
Prevention |
RCV004535082 | SCV004757212 | likely benign | MSH2-related disorder | 2022-04-11 | 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, |
RCV003995278 | SCV004827244 | likely benign | Lynch syndrome | 2023-05-16 | criteria provided, single submitter | clinical testing |