Total submissions: 21
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
International Society for Gastrointestinal Hereditary Tumours |
RCV000076842 | SCV000108330 | no known pathogenicity | Lynch syndrome | 2013-09-05 | reviewed by expert panel | research | MAF >1% |
Eurofins Ntd Llc |
RCV000079107 | SCV000110976 | benign | not specified | 2014-12-02 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162400 | SCV000212726 | benign | Hereditary cancer-predisposing syndrome | 2014-11-18 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
Invitae | RCV000857353 | SCV000252713 | benign | Hereditary nonpolyposis colorectal neoplasms | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Preventiongenetics, |
RCV000079107 | SCV000304727 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000605440 | SCV000469718 | benign | Lynch syndrome 4 | 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. |
Laboratory for Molecular Medicine, |
RCV000079107 | SCV000711444 | benign | not specified | 2017-04-20 | criteria provided, single submitter | clinical testing | c.2007-4G>A in intron 11 of PMS2: This variant is not expected to have clinical significance because it has been identified in 29% (3575/12334) of East Asian ch romosomes by the Genome Aggregation Database (GnomAD, http://gnomad.broadinstitu te.org; dbSNP rs1805326). |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000605440 | SCV000745185 | benign | Lynch syndrome 4 | 2015-09-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000605440 | SCV000785193 | benign | Lynch syndrome 4 | 2017-06-13 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001650894 | SCV001156610 | benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001650894 | SCV001867003 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000605440 | SCV004016579 | benign | Lynch syndrome 4 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV000605440 | SCV004019870 | benign | Lynch syndrome 4 | 2023-04-05 | 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. |
Color Diagnostics, |
RCV000162400 | SCV004359574 | benign | Hereditary cancer-predisposing syndrome | 2015-03-31 | criteria provided, single submitter | clinical testing | |
Pathway Genomics | RCV000144647 | SCV000189974 | benign | Lynch syndrome 1 | 2014-07-24 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001353429 | SCV000592944 | benign | Endometrial carcinoma | no assertion criteria provided | clinical testing | PMS2, INTRON 11, c.2007-4G>A, p.?, (Alias:IVS11-4G>A ), Benign (ACMG 5) The PMS2 c.2007-4G>A variant was identified in 51 of 306 proband chromosomes (frequency: 0.167) from individuals or families with Hereditary Non-Polyposis Colon Cancer (16472587_Hendriks_2006, 16619239_clendenning_2006); however, control chromosomes were not evaluated in these studies, thus the prevalence of this variant in the general population could not be determined. The variant was also identified in dbSNP (ID: rs140788589) “With benign allele”, with a minor allele frequency of 0.1627 (1000 Genomes Project), “InSiGHT Colon Cancer Database”, and the ClinVar database. The variant was classified as a benign variant by the Sharing Clinical Reports Project (SCRP) (submitted within the ClinVar database and derived from Myriad reports). The c.2007-4G>A variant occurs outside of the splicing consensus sequence and in silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) does not predict a difference in splicing in 5 of 5 different programs. (However, this information is not predictive enough to rule out pathogenicity.) In summary, based on the above information, this variant meets our laboratory's criteria to be classified as benign. | |
Mayo Clinic Laboratories, |
RCV000079107 | SCV000691962 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000605440 | SCV000734560 | benign | Lynch syndrome 4 | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000079107 | SCV001906150 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000079107 | SCV001921259 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079107 | SCV001955940 | benign | not specified | no assertion criteria provided | clinical testing |