Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154624 | SCV000204298 | benign | not specified | 2013-05-20 | criteria provided, single submitter | clinical testing | The 1639+10C_T variant in KIF1B: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, has been identified in 30% (2553/8600) of Euro pean American chromosomes and 26% (820/4406) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs3 753037). |
Prevention |
RCV000154624 | SCV000312353 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000341720 | SCV000346615 | benign | Neuroblastoma | 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. |
Labcorp Genetics |
RCV000305524 | SCV000999941 | benign | Charcot-Marie-Tooth disease type 2 | 2025-02-04 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173392 | SCV001336480 | benign | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing | ||
Gene |
RCV001711423 | SCV001940565 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001730577 | SCV001981054 | benign | Charcot-Marie-Tooth disease type 2A1 | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001730576 | SCV001981055 | benign | Pheochromocytoma | 2021-08-19 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000154624 | SCV002703037 | benign | not specified | 2020-07-28 | 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. |
Breakthrough Genomics, |
RCV001711423 | SCV005286938 | benign | not provided | criteria provided, single submitter | not provided | ||
Diagnostic Laboratory, |
RCV000154624 | SCV001742098 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000154624 | SCV001922267 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000154624 | SCV001958445 | benign | not specified | no assertion criteria provided | clinical testing |