Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000518551 | SCV000613137 | likely benign | not specified | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000990609 | SCV000751571 | benign | Duchenne muscular dystrophy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000733400 | SCV000861466 | uncertain significance | not provided | 2018-05-29 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990609 | SCV001141624 | likely benign | Duchenne muscular dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002420297 | SCV002681730 | benign | Cardiovascular phenotype | 2019-01-14 | 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. |
Revvity Omics, |
RCV000733400 | SCV003834738 | uncertain significance | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004535677 | SCV004727156 | likely benign | DMD-related disorder | 2022-08-15 | 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, |
RCV001834662 | SCV002087706 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2020-10-22 | no assertion criteria provided | clinical testing |