Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000271697 | SCV000343897 | benign | not specified | 2016-09-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000464733 | SCV000560832 | benign | Duchenne muscular dystrophy | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000271697 | SCV000720914 | benign | not specified | 2017-11-17 | 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 | RCV004992163 | SCV005566444 | benign | Cardiovascular phenotype | 2024-10-01 | criteria provided, single submitter | clinical testing | This alteration is classified as 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. |
Diagnostic Laboratory, |
RCV001528635 | SCV001740682 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV001528635 | SCV001800442 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000271697 | SCV001932427 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001528635 | SCV001967857 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001835763 | SCV002090446 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2017-11-16 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004737423 | SCV005353973 | benign | DMD-related disorder | 2024-07-29 | no assertion criteria provided | 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). |