Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151536 | SCV000199659 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | c.1450-9T>G in Intron 14 of NEBL: This variant is not expected to have clinical significance because it has been identified in 17.5% (7/40) of chromosomes from a population in the dbSNP database (http://www.ncbi.nlm.nih.gov/projects/SNP; rs 45628140). |
Gene |
RCV000151536 | SCV000236084 | benign | not specified | 2014-08-28 | 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 | RCV000227446 | SCV000289518 | benign | Primary dilated cardiomyopathy | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003927463 | SCV004739941 | benign | NEBL-related condition | 2019-02-25 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Genome Diagnostics Laboratory, |
RCV000151536 | SCV001932178 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001727600 | SCV001968619 | likely benign | not provided | no assertion criteria provided | clinical testing |