Total submissions: 15
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000125086 | SCV000168526 | benign | not specified | 2014-03-30 | 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 |
RCV000229729 | SCV000287286 | benign | Congenital contractural arachnodactyly | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000125086 | SCV000308661 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Eurofins Ntd Llc |
RCV000125086 | SCV000342704 | likely benign | not specified | 2016-07-13 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000229729 | SCV000452534 | benign | Congenital contractural arachnodactyly | 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. |
Genome Diagnostics Laboratory, |
RCV000229729 | SCV000743973 | benign | Congenital contractural arachnodactyly | 2014-10-09 | criteria provided, single submitter | clinical testing | |
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000229729 | SCV000745421 | likely benign | Congenital contractural arachnodactyly | 2017-01-19 | criteria provided, single submitter | clinical testing | |
Center for Human Genetics, |
RCV000680524 | SCV000807926 | likely benign | Connective tissue disorder | 2018-06-01 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001795236 | SCV001472215 | benign | not provided | 2022-10-20 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277266 | SCV002565984 | benign | Ehlers-Danlos syndrome | 2022-03-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000680524 | SCV002566609 | benign | Connective tissue disorder | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000125086 | SCV004029360 | benign | not specified | 2023-07-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001795236 | SCV004159313 | likely benign | not provided | 2024-05-01 | criteria provided, single submitter | clinical testing | FBN2: BP4, BS1 |
Genome Diagnostics Laboratory, |
RCV000229729 | SCV000745920 | benign | Congenital contractural arachnodactyly | 2014-11-21 | no assertion criteria provided | clinical testing | |
Laboratory of Diagnostic Genome Analysis, |
RCV001795236 | SCV002036798 | likely benign | not provided | no assertion criteria provided | clinical testing |