Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000226633 | SCV000287308 | benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000611216 | SCV000710907 | benign | not specified | 2016-05-18 | criteria provided, single submitter | clinical testing | c.1774-6C>T of JUP: This variant is not expected to have clinical significance b ecause a C>T change at this position does not diverge from the splice consensus sequence and is therefore unlikely to impact splicing. It has been identified in 1.8% (241/13422) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs375016135). |
Illumina Laboratory Services, |
RCV001125654 | SCV001284751 | likely benign | Arrhythmogenic right ventricular dysplasia 12 | 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, |
RCV001125655 | SCV001284752 | uncertain significance | Naxos disease | 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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease. |
Gene |
RCV001529895 | SCV001840017 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003486781 | SCV004240703 | benign | Cardiomyopathy | 2022-11-16 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV001529895 | SCV001744158 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000611216 | SCV001924784 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001529895 | SCV001931088 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000611216 | SCV001971407 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001529895 | SCV001979386 | likely benign | not provided | no assertion criteria provided | clinical testing |