Total submissions: 24
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000131720 | SCV000186760 | benign | Hereditary cancer-predisposing syndrome | 2015-06-12 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Eurofins Ntd Llc |
RCV000116427 | SCV000229848 | benign | not specified | 2015-05-21 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000116427 | SCV000301674 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000316554 | SCV000367059 | benign | Ataxia-telangiectasia syndrome | 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. |
Laboratory for Molecular Medicine, |
RCV000116427 | SCV000538367 | benign | not specified | 2016-03-28 | criteria provided, single submitter | clinical testing | Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Frequency |
ARUP Laboratories, |
RCV000710673 | SCV000602550 | benign | not provided | 2023-11-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000131720 | SCV000682273 | benign | Hereditary cancer-predisposing syndrome | 2014-11-05 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000710673 | SCV000840944 | benign | not provided | 2017-07-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000316554 | SCV001000293 | benign | Ataxia-telangiectasia syndrome | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000316554 | SCV001138521 | benign | Ataxia-telangiectasia syndrome | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000316554 | SCV001750400 | benign | Ataxia-telangiectasia syndrome | 2021-07-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710673 | SCV001886449 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 25591549, 31382929, 28652578, 18502988, 24728327, 16914028, 27599564, 27153395, 17333338, 15756685, 22792358, 22529920, 20396981, 18465141, 17517479, 23585524, 24599715, 19147782, 17351744) |
National Health Laboratory Service, |
RCV002225338 | SCV002504734 | benign | Hereditary breast ovarian cancer syndrome | 2022-04-19 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000131720 | SCV002528521 | benign | Hereditary cancer-predisposing syndrome | 2021-05-03 | criteria provided, single submitter | curation | |
KCCC/NGS Laboratory, |
RCV003315664 | SCV004016047 | benign | Familial cancer of breast | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
RCV003315664 | SCV005083958 | benign | Familial cancer of breast | 2024-05-23 | criteria provided, single submitter | clinical testing | This variant is considered benign. This variant has been observed at a population frequency that is significantly greater than expected given the associated disease prevalence and penetrance. |
Breakthrough Genomics, |
RCV000710673 | SCV005229294 | benign | not provided | criteria provided, single submitter | not provided | ||
ITMI | RCV000116427 | SCV000084286 | not provided | not specified | 2013-09-19 | no assertion provided | reference population | |
Genetic Services Laboratory, |
RCV000116427 | SCV000150352 | likely benign | not specified | no assertion criteria provided | clinical testing | Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed. | |
Diagnostic Laboratory, |
RCV000116427 | SCV001742085 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics Laboratory, |
RCV000116427 | SCV001906356 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000116427 | SCV001920142 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000116427 | SCV001958422 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000116427 | SCV001978240 | benign | not specified | no assertion criteria provided | clinical testing |