Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151543 | SCV000199672 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | p.Pro208Pro in Exon 07 of NEBL: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence and has been identified in 0.3% (12/3738) of Afr ican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs111854914). |
Invitae | RCV000552190 | SCV000623482 | benign | Primary dilated cardiomyopathy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001711593 | SCV001940686 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000151543 | SCV002658681 | likely benign | not specified | 2022-03-12 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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, |
RCV000151543 | SCV004038165 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965129 | SCV004785646 | likely benign | NEBL-related disorder | 2024-01-01 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |