Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081616 | SCV000166217 | likely benign | Hereditary nonpolyposis colorectal neoplasms | 2024-01-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000212662 | SCV000170355 | benign | not specified | 2014-05-12 | 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. |
Ambry Genetics | RCV000126828 | SCV000213307 | likely benign | Hereditary cancer-predisposing syndrome | 2015-01-12 | 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, |
RCV000126828 | SCV000690249 | likely benign | Hereditary cancer-predisposing syndrome | 2015-07-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000656571 | SCV000805858 | likely benign | not provided | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000212662 | SCV001362790 | likely benign | not specified | 2019-09-20 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000126828 | SCV002535714 | likely benign | Hereditary cancer-predisposing syndrome | 2020-10-27 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000212662 | SCV002552306 | likely benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000656571 | SCV004698933 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | MSH6: BP4, BP7 |
All of Us Research Program, |
RCV001354018 | SCV004841872 | likely benign | Lynch syndrome | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001354018 | SCV000592601 | likely benign | Lynch syndrome | no assertion criteria provided | clinical testing | The p.Leu747Leu variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. In addition, in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) do not predict a difference in splicing. The variant was identified by Woods (2005) in the proband of a Lynch syndrome-like family; the prevalence of the variant in a control group was not included in the published data. The variant was identified at very low frequencies (<0.0001 – 0.00015) in three populations in the Exome Aggregation Consortium (ExAC) database: European (Finnish), European (Non-Finnish), and African). These low frequencies are not substantive enough to comment on the variant’s relationship to disease.The variant was identified in the UMD (1X as an unclassified variant), “Mismatch Repair Genes Variant Database”, InSiGHT Colon Cancer Gene Variant Database, the ClinVar database (classified as benign by GeneDX, classified as likely benign by Invitae and Ambry Genetics, classified with uncertain significance by InSiGHT). In summary, based on the above information, the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as predicted benign. | |
Mayo Clinic Laboratories, |
RCV000656571 | SCV000778619 | likely benign | not provided | 2017-11-16 | no assertion criteria provided | clinical testing |