Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000303979 | SCV000338336 | uncertain significance | not provided | 2016-01-08 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001519060 | SCV001727863 | benign | Duchenne muscular dystrophy | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002356382 | SCV002620218 | likely benign | Cardiovascular phenotype | 2021-10-14 | 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 |
RCV004535347 | SCV004737717 | likely benign | DMD-related disorder | 2019-09-12 | 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, |
RCV001833350 | SCV002085401 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2018-06-01 | no assertion criteria provided | clinical testing |