Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725803 | SCV000339513 | uncertain significance | not provided | 2018-02-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725803 | SCV000720141 | likely benign | not provided | 2019-04-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081154 | SCV001004073 | likely benign | Duchenne muscular dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002374469 | SCV002688560 | likely benign | Cardiovascular phenotype | 2019-07-14 | 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 |
RCV004535362 | SCV004720300 | likely benign | DMD-related disorder | 2019-06-12 | 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). |
Genome Diagnostics Laboratory, |
RCV000725803 | SCV001928272 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000725803 | SCV001974253 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001833358 | SCV002080195 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2019-07-02 | no assertion criteria provided | clinical testing |