Total submissions: 16
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000039827 | SCV000063518 | benign | not specified | 2012-04-30 | criteria provided, single submitter | clinical testing | Asp594Asp in Exon 20 of COL11A2: 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, and has been identified in 0.6% (29/4488) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs41266697). |
Prevention |
RCV000039827 | SCV000315342 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Laboratory Services, |
RCV000381463 | SCV000462501 | likely benign | Stickler Syndrome, Dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000285448 | SCV000462502 | likely benign | Otospondylomegaepiphyseal dysplasia, autosomal recessive | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Illumina Laboratory Services, |
RCV000376336 | SCV000462504 | likely benign | Otospondylomegaepiphyseal dysplasia, autosomal dominant | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000281835 | SCV000462505 | likely benign | Fibrochondrogenesis 2 | 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease. |
Gene |
RCV000991812 | SCV000518598 | benign | not provided | 2018-06-01 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: no PMID) |
Eurofins Ntd Llc |
RCV000039827 | SCV000701067 | benign | not specified | 2017-01-09 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000991812 | SCV001143581 | benign | not provided | 2019-01-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000991812 | SCV001154717 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | COL11A2: BP4, BP7, BS2 |
ARUP Laboratories, |
RCV000991812 | SCV001474425 | benign | not provided | 2022-04-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000991812 | SCV001732790 | benign | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV002277129 | SCV002566849 | benign | Connective tissue disorder | 2022-06-06 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000039827 | SCV001808322 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000039827 | SCV001954682 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000991812 | SCV001965117 | likely benign | not provided | no assertion criteria provided | clinical testing |