Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154728 | SCV000204408 | likely benign | not specified | 2014-11-17 | criteria provided, single submitter | clinical testing | p.Asn211Asn in exon 4 of JUP: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 0.1% (2/3738) of Africa n American chromosomes from a broad population by the NHLBI Exome Sequencing Pro ject (http://evs.gs.washington.edu/EVS; dbSNP rs372145644). |
Gene |
RCV000154728 | SCV000513311 | benign | not specified | 2016-03-28 | 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. |
Invitae | RCV000645219 | SCV000766961 | benign | Naxos disease; Arrhythmogenic right ventricular dysplasia 12 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Phosphorus, |
RCV000154728 | SCV002073398 | likely benign | not specified | 2022-01-14 | criteria provided, single submitter | clinical testing | This is a synonymous variant occurring in gnomAD with a total MAF of 0.0070% and highest MAF of 0.1002%. This position is not strongly conserved and this variant is not predicted to impact splicing as it is located 75bp from the nearest splice site. This variant is not present in the literature in association with disease. Considering the evidence, this variant is Likely Benign. |
Ambry Genetics | RCV002354366 | SCV002654699 | likely benign | Cardiovascular phenotype | 2019-04-25 | 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. |