Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000570721 | SCV000662518 | likely benign | Hereditary cancer-predisposing syndrome | 2018-01-29 | 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. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000588628 | SCV000695819 | uncertain significance | not provided | 2017-06-05 | criteria provided, single submitter | clinical testing | Variant summary: The MSH6 c.2604G>A (p.Met868Ile) variant involves the alteration of a conserved nucleotide, resulting in a missense substitution in the DNA mismatch repair protein MutS, core domain (InterPro). 3/4 in silico tools predict a benign outcome for this variant (SNPsandGO not captured due to low reliability index). This variant was found in the large control database ExAC at a frequency of 0.0000083 (1/120240 control chromosomes), which does not exceed the estimated maximal expected allele frequency of a pathogenic MSH6 variant (0.0001421). The variant of interest has not, to our knowledge, been reported in affected individuals via publications, nor has it been evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available. |
| Invitae | RCV000692110 | SCV000819918 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2023-11-27 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV000570721 | SCV000911256 | likely benign | Hereditary cancer-predisposing syndrome | 2016-12-15 | criteria provided, single submitter | clinical testing | |
| Genetic Services Laboratory, |
RCV001821659 | SCV002069568 | uncertain significance | not specified | 2019-07-30 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003459291 | SCV004197611 | uncertain significance | Endometrial carcinoma | 2023-10-19 | criteria provided, single submitter | clinical testing | |
| All of Us Research Program, |
RCV004000882 | SCV004838316 | likely benign | Lynch syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing |