Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000079483 | SCV000111363 | benign | not specified | 2012-09-26 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000162959 | SCV000213447 | benign | Hereditary cancer-predisposing syndrome | 2014-11-21 | 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. |
Prevention |
RCV000079483 | SCV000306707 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000280048 | SCV000466438 | benign | Papillary renal cell carcinoma type 1 | 2018-01-12 | 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. |
Gene |
RCV000079483 | SCV000518948 | benign | not specified | 2016-03-01 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Labcorp Genetics |
RCV001507224 | SCV000563136 | benign | Renal cell carcinoma | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000589420 | SCV000697657 | benign | not provided | 2016-08-18 | criteria provided, single submitter | clinical testing | Variant summary: The MET c.1131C>T (p.Ile377Ile) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a polymorphism outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect ESE site of SRp40. This variant was found in 2192/116598 control chromosomes (215 homozygotes), predominantly observed in the African subpopulation at a frequency of 0.2046621 (1993/9738). This frequency is about 136441 times the estimated maximal expected allele frequency of a pathogenic MET variant (0.0000015), suggesting this is a common benign polymorphism found primarily in the populations of African origin. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. Taken together, this variant is classified as benign. |
Athena Diagnostics | RCV000589420 | SCV000842762 | benign | not provided | 2018-05-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000589420 | SCV001157088 | benign | not provided | 2023-11-29 | criteria provided, single submitter | clinical testing | |
Sema4, |
RCV000162959 | SCV002532095 | benign | Hereditary cancer-predisposing syndrome | 2021-05-19 | criteria provided, single submitter | curation | |
Center for Genomic Medicine, |
RCV000079483 | SCV002550782 | benign | not specified | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000589420 | SCV002774019 | benign | not provided | 2022-04-28 | criteria provided, single submitter | clinical testing | |
KCCC/NGS Laboratory, |
RCV000280048 | SCV004015839 | benign | Papillary renal cell carcinoma type 1 | 2023-07-07 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000589420 | SCV005273283 | benign | not provided | criteria provided, single submitter | not provided | ||
Clinical Genetics, |
RCV000079483 | SCV001918209 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000079483 | SCV001957687 | benign | not specified | no assertion criteria provided | clinical testing |