Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080805 | SCV000112707 | benign | not specified | 2013-10-22 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000080805 | SCV000235821 | benign | not specified | 2014-09-15 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
ARUP Laboratories, |
RCV001811378 | SCV001159198 | benign | not provided | 2023-09-06 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001513532 | SCV001721164 | benign | Duchenne muscular dystrophy | 2025-02-02 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000080805 | SCV004038110 | benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001831876 | SCV002087656 | benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2018-04-11 | no assertion criteria provided | clinical testing |