Total submissions: 20
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079500 | SCV000111382 | benign | not specified | 2014-11-12 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000131427 | SCV000186408 | benign | Hereditary cancer-predisposing syndrome | 2014-10-28 | 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. |
Preventiongenetics, |
RCV000079500 | SCV000306733 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000299432 | SCV000357896 | benign | Familial adenomatous polyposis 2 | 2018-03-06 | 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. |
Color Diagnostics, |
RCV000131427 | SCV000537346 | benign | Hereditary cancer-predisposing syndrome | 2015-03-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000034684 | SCV000604305 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000299432 | SCV000639247 | benign | Familial adenomatous polyposis 2 | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000079500 | SCV000710869 | benign | not specified | 2017-05-12 | criteria provided, single submitter | clinical testing | p.Ser372Phe in exon 12 of MUTYH: This variant is not expected to have clinical s ignificance because it has been identified in 49% (15851/32596) of Latino chromo somes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.o rg; dbSNP rs3219489). |
Gene |
RCV000034684 | SCV001940113 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 23108399, 22703879, 22780951, 22926731, 18422726, 20149637, 22466227, 18823566, 19161591, 23499241, 23460202, 24728327, 18534194, 26377631, 25820570, 27153395, 29954149, 28628107, 27705013, 31027119, 30564557, 23618615, 31104418) |
KCCC/NGS Laboratory, |
RCV000299432 | SCV004016023 | benign | Familial adenomatous polyposis 2 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Biesecker Lab/Clinical Genomics Section, |
RCV000034684 | SCV000043372 | no known pathogenicity | not provided | 2012-07-13 | no assertion criteria provided | research | Converted during submission to Benign. |
ITMI | RCV000079500 | SCV000085793 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Pathway Genomics | RCV000144634 | SCV000189961 | benign | Carcinoma of colon | 2014-07-24 | no assertion criteria provided | clinical testing | |
Department of Pathology and Laboratory Medicine, |
RCV001270291 | SCV000592707 | benign | Familial multiple polyposis syndrome | no assertion criteria provided | clinical testing | The p.Gln338His variant was not identified in the literature. The p.Gln338 residue is not conserved in mammals and this variant is listed in dbSNP as a common polymorphism in different populations of origin with an average heterozygosity reported as 0.403+/-0.198 (dbSNP#: rs3219489), increasing the likelihood that the variant has no clinical significance. In summary, based on the above information, this variant is classified as benign. | |
Mayo Clinic Laboratories, |
RCV000079500 | SCV000691949 | benign | not specified | no assertion criteria provided | clinical testing | ||
Diagnostic Laboratory, |
RCV000079500 | SCV001740567 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000079500 | SCV001922460 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079500 | SCV001952901 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000079500 | SCV001968575 | benign | not specified | no assertion criteria provided | clinical testing | ||
Institute for Biomarker Research, |
RCV000131427 | SCV002050309 | benign | Hereditary cancer-predisposing syndrome | 2021-12-21 | no assertion criteria provided | clinical testing |