Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000461885 | SCV000543591 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-05 | criteria provided, single submitter | clinical testing | |
University of Washington Department of Laboratory Medicine, |
RCV000758581 | SCV000887326 | uncertain significance | Lynch syndrome | 2018-05-01 | criteria provided, single submitter | clinical testing | MLH1 NM_000249.3:c.1897-7C>T has a 7.8% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.16 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the MLH1 locus. See Shirts et al 2018, PMID 29887214. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759811 | SCV000889391 | uncertain significance | not provided | 2022-11-08 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population, 0.000004 (1/251320 chromosomes, http://gnomad.broadinstitute.org), is uninformative in assessment of its pathogenicity. In the published literature, the variant has been reported in the somatic state in a tumor sample (PMID: 29887214 (2018)). Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on MLH1 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. |
Color Diagnostics, |
RCV001189941 | SCV001357337 | likely benign | Hereditary cancer-predisposing syndrome | 2020-12-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000759811 | SCV001833110 | likely benign | not provided | 2019-05-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001189941 | SCV002722557 | likely benign | Hereditary cancer-predisposing syndrome | 2020-04-09 | 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. |
Genome |
RCV001535615 | SCV001749636 | not provided | Hereditary nonpolyposis colon cancer | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 12-23-2016 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |