Total submissions: 19
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000077982 | SCV000109813 | benign | not specified | 2012-10-26 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000077982 | SCV000301589 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000379464 | SCV000451993 | benign | APC-Associated Polyposis Disorders | 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease. |
Invitae | RCV003315584 | SCV000562613 | benign | Familial adenomatous polyposis 1 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001610343 | SCV000602529 | benign | not provided | 2023-10-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000579978 | SCV000681498 | benign | Hereditary cancer-predisposing syndrome | 2016-03-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001610343 | SCV001840718 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Center for Genomic Medicine, |
RCV000077982 | SCV002550591 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Institute for Biomarker Research, |
RCV000579978 | SCV002819226 | benign | Hereditary cancer-predisposing syndrome | 2022-11-22 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV003315584 | SCV004015759 | benign | Familial adenomatous polyposis 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003315584 | SCV004931024 | benign | Familial adenomatous polyposis 1 | 2024-03-07 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant is intronic and is not expected to impact mRNA splicing. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. |
Systems Biology Platform Zhejiang California International Nano |
RCV000073605 | SCV000105196 | cancer | Familial colorectal cancer | no assertion criteria provided | not provided | Converted during submission to other. | |
Mayo Clinic Laboratories, |
RCV000077982 | SCV000256935 | benign | not specified | no assertion criteria provided | clinical testing | ||
Department of Pathology and Laboratory Medicine, |
RCV001353873 | SCV000591100 | benign | Carcinoma of colon | no assertion criteria provided | clinical testing | The c.1958+8T>C variant has been reported once in the InSiGHT database in an individual with familial adenomatous polyposis. It is listed in the dbSNP database (rs#:62626346) and reported from the 1000 genomes project (frequency: 0.026) and in a Chinese and Japanese cohort (frequency: 0.067) as well as the exome variant server as a low frequency variant increasing the likelihood this variant does not have clinical significance. The variant is located in the 5' splice region but does not affect the highly conserved +1 and +2 positions. In summary, based on above information this variant meets our laboratory's criteria to be classified benign. | |
True Health Diagnostics | RCV000579978 | SCV000693472 | likely benign | Hereditary cancer-predisposing syndrome | 2017-09-29 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV000077982 | SCV001797967 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000077982 | SCV001808058 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000077982 | SCV001924958 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000077982 | SCV001952726 | benign | not specified | no assertion criteria provided | clinical testing |