Total submissions: 11
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000117017 | SCV000168469 | benign | not specified | 2012-11-16 | 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. |
| Laboratory for Molecular Medicine, |
RCV000117017 | SCV000269091 | benign | not specified | 2013-04-04 | criteria provided, single submitter | clinical testing | Pro61Pro in exon 1 of FBN2: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 17.0% (745/4394) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs73348287). |
| Prevention |
RCV000117017 | SCV000308593 | benign | not specified | criteria provided, single submitter | clinical testing | ||
| Ambry Genetics | RCV002310659 | SCV000317788 | benign | Familial thoracic aortic aneurysm and aortic dissection | 2014-11-25 | 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. |
| Illumina Laboratory Services, |
RCV000270275 | SCV000452658 | benign | Congenital contractural arachnodactyly | 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. |
| ARUP Laboratories, |
RCV001811410 | SCV000603681 | benign | not provided | 2023-11-28 | criteria provided, single submitter | clinical testing | |
| Genome Diagnostics Laboratory, |
RCV000270275 | SCV000743988 | benign | Congenital contractural arachnodactyly | 2017-07-28 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000270275 | SCV001730870 | benign | Congenital contractural arachnodactyly | 2024-02-01 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV000117017 | SCV004029364 | benign | not specified | 2023-07-21 | criteria provided, single submitter | clinical testing | |
| Genetic Services Laboratory, |
RCV000117017 | SCV000151138 | 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. | |
| Genome Diagnostics Laboratory, |
RCV000270275 | SCV000745941 | benign | Congenital contractural arachnodactyly | 2014-11-19 | no assertion criteria provided | clinical testing |