Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000154798 | SCV000204478 | likely benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Ala343Ala in exon 9 of NEXN: This variant is not expected to have clinical signi ficance because it does not alter an amino acid residue and is not located withi n the splice consensus sequence. It has been identified in 1/3722 African Americ an chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.e du/EVS). Ala343Ala in exon 9 of NEXN (allele freq = 1/3722)** |
Gene |
RCV000154798 | SCV000513925 | benign | not specified | 2015-07-22 | 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 | RCV000545192 | SCV000648473 | likely benign | Dilated cardiomyopathy 1CC; Hypertrophic cardiomyopathy 20 | 2023-08-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000620851 | SCV000740031 | likely benign | Cardiovascular phenotype | 2016-09-24 | 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. |
ARUP Laboratories, |
RCV001812130 | SCV002049059 | likely benign | not provided | 2020-10-01 | criteria provided, single submitter | clinical testing |