Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000555536 | SCV000645746 | likely benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2023-09-05 | criteria provided, single submitter | clinical testing | |
Laboratory for Molecular Medicine, |
RCV000605902 | SCV000732002 | likely benign | not specified | 2017-10-10 | criteria provided, single submitter | clinical testing | p.Tyr22Tyr in exon 2 of JUP: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and it is not located wi thin the splice consensus sequence. It has been identified in 8/275726 chromoso mes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org ; dbSNP rs782575179). ACMG/AMP Criteria applied: BP4, BP7 (Richards 2015). |
Gene |
RCV001613361 | SCV001837957 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002367885 | SCV002664886 | likely benign | Cardiovascular phenotype | 2017-03-23 | criteria provided, single submitter | clinical testing | This alteration is classified as likely 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. |