Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000038683 | SCV000062361 | likely benign | not specified | 2012-09-24 | criteria provided, single submitter | clinical testing | Glu40Glu in exon 2 of NEBL: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. Glu40Glu in exon 2 of NEBL (allele frequency = n/a) |
Invitae | RCV000560836 | SCV000623462 | benign | Primary dilated cardiomyopathy | 2023-11-06 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000038683 | SCV000728575 | benign | not specified | 2015-09-24 | 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. |
Ambry Genetics | RCV002354197 | SCV002651970 | likely benign | Inborn genetic diseases | 2022-06-12 | 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. |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000038683 | SCV004038154 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |