Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000154628 | SCV000169890 | benign | not specified | 2013-09-24 | 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, |
RCV000154628 | SCV000204302 | benign | not specified | 2013-10-10 | criteria provided, single submitter | clinical testing | His675His in Exon 12 of JUP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue, is not located within t he splice consensus sequence and has been identified in 1.0% (36/3738) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs140670556). |
Invitae | RCV000233472 | SCV000287310 | benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000253125 | SCV000318442 | benign | Cardiovascular phenotype | 2017-01-26 | criteria provided, single submitter | clinical testing | This alteration is classified as benign based on a combination of the following: 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000769485 | SCV000900880 | likely benign | Cardiomyopathy | 2015-11-05 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000154628 | SCV001362162 | benign | not specified | 2019-11-23 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001727589 | SCV001471692 | likely benign | not provided | 2020-08-23 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000154628 | SCV001744042 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000154628 | SCV001919918 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000154628 | SCV001931323 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727589 | SCV001971316 | likely benign | not provided | no assertion criteria provided | clinical testing |