Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV001094469 | SCV000388761 | uncertain significance | Colorectal cancer, hereditary nonpolyposis, type 7 | 2018-01-13 | criteria provided, single submitter | clinical testing | This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
| Invitae | RCV001094469 | SCV000551770 | likely benign | Colorectal cancer, hereditary nonpolyposis, type 7 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
| CSER _CC_NCGL, |
RCV000269033 | SCV000700106 | uncertain significance | Lynch syndrome | 2016-10-01 | criteria provided, single submitter | research | Found in patient having exome sequencing due to suspicion for hereditary colon cancer and/or polyps. Patient is a 51 year old male with more than 40 colon polyps. This interpretation considers GERP score and allele frequency data, in addition to published reports of the variant in the literature, available at the time of review. |
| Mayo Clinic Laboratories, |
RCV002261047 | SCV002541224 | uncertain significance | not provided | 2021-06-07 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003321583 | SCV002614674 | likely benign | not specified | 2020-06-25 | 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. |
| Center for Genomic Medicine, |
RCV003321583 | SCV004027526 | uncertain significance | not specified | 2024-02-06 | criteria provided, single submitter | clinical testing |