Total submissions: 10
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000213171 | SCV000268946 | benign | not specified | 2015-01-13 | criteria provided, single submitter | clinical testing | p.Ala573Val in exon 15 of DMD: This variant is not expected to have clinical sig nificance because it has been identified in 1.4% (55/3831) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs5972599). |
Ambry Genetics | RCV000251049 | SCV000318504 | benign | Cardiovascular phenotype | 2017-04-04 | 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. |
Labcorp Genetics |
RCV000469616 | SCV000560804 | benign | Duchenne muscular dystrophy | 2025-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000213171 | SCV001475841 | benign | not specified | 2020-02-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001722144 | SCV001946921 | benign | not provided | 2015-03-03 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000213171 | SCV004038122 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV001722144 | SCV005276044 | benign | not provided | criteria provided, single submitter | not provided | ||
ARUP Laboratories, |
RCV001722144 | SCV005876178 | benign | not provided | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000213171 | SCV006065911 | benign | not specified | 2025-04-09 | criteria provided, single submitter | clinical testing | BS1;BP1;BP6 |
Natera, |
RCV001828055 | SCV002092245 | benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2020-04-11 | no assertion criteria provided | clinical testing |