Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000441687 | SCV000513632 | likely benign | not specified | 2015-12-02 | 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. |
| Laboratory for Molecular Medicine, |
RCV000441687 | SCV000539636 | likely benign | not specified | 2016-12-02 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: This is a silent variant that has not been reported in ClinVar or HGMD. It is not at an exon/intron boundary. |
| Invitae | RCV000456340 | SCV000543570 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-22 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV001014087 | SCV001174756 | likely benign | Hereditary cancer-predisposing syndrome | 2019-01-31 | 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. |
| Color Diagnostics, |
RCV001014087 | SCV001352064 | likely benign | Hereditary cancer-predisposing syndrome | 2019-09-26 | criteria provided, single submitter | clinical testing | |
| Quest Diagnostics Nichols Institute San Juan Capistrano | RCV003477913 | SCV004220867 | likely benign | not provided | 2023-03-30 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV003995966 | SCV004843256 | likely benign | Lynch syndrome | 2023-09-05 | criteria provided, single submitter | clinical testing |