Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219237 | SCV000270124 | likely benign | not specified | 2015-04-08 | criteria provided, single submitter | clinical testing | p.Glu501Glu in exon 13 of DMD: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 6/45495 European ch romosomes, including 2 hemizygotes, by the Exome Aggregation Consortium (ExAC, h ttp://exac.broadinstitute.org). |
Gene |
RCV001697284 | SCV000533163 | benign | not provided | 2020-05-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000461573 | SCV000560849 | likely benign | Duchenne muscular dystrophy | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000219237 | SCV000613106 | benign | not specified | 2017-07-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390570 | SCV002699425 | likely benign | Cardiovascular phenotype | 2018-10-30 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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 |
RCV003897466 | SCV004717107 | likely benign | DMD-related condition | 2023-06-14 | 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, |
RCV001833182 | SCV002090361 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2017-04-20 | no assertion criteria provided | clinical testing |