Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000166283 | SCV000217065 | likely benign | Hereditary cancer-predisposing syndrome | 2014-10-21 | 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 |
RCV000679298 | SCV000515997 | likely benign | not provided | 2019-08-29 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23047549) |
Invitae | RCV001083110 | SCV000625324 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-12-21 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000166283 | SCV000684989 | likely benign | Hereditary cancer-predisposing syndrome | 2016-10-08 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000679298 | SCV000806015 | likely benign | not provided | 2018-01-11 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000679298 | SCV004220963 | uncertain significance | not provided | 2023-07-14 | criteria provided, single submitter | clinical testing | In the published literature, this variant has been reported in at least one individual with ovarian cancer (PMID: 23047549 (2012)). The frequency of this variant in the general population, 0.00014 (5/34592 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on MSH2 mRNA splicing yielded predictions that this variant may result in the gain of a cryptic splice site without affecting the natural splice sites . Based on the available information, we are unable to determine the clinical significance of this variant. |
All of Us Research Program, |
RCV003995496 | SCV004829796 | likely benign | Lynch syndrome | 2024-02-05 | criteria provided, single submitter | clinical testing |