Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001721360 | SCV000530932 | benign | not provided | 2021-01-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000533891 | SCV000625853 | benign | Duchenne muscular dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000440631 | SCV000703103 | likely benign | not specified | 2016-10-27 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002411378 | SCV002724155 | likely benign | Cardiovascular phenotype | 2019-01-28 | 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. |
Prevention |
RCV004539875 | SCV004778061 | likely benign | DMD-related disorder | 2019-09-03 | 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). |
Natera, |
RCV001833553 | SCV002092223 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2019-06-24 | no assertion criteria provided | clinical testing |