Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000080544 | SCV000112446 | benign | not specified | 2013-09-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000080544 | SCV000168140 | benign | not specified | 2014-05-02 | 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, |
RCV003656101 | SCV001159684 | benign | not provided | 2023-11-03 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004537356 | SCV004718087 | likely benign | DMD-related disorder | 2020-03-02 | 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, |
RCV001826741 | SCV002093607 | likely benign | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2017-08-10 | no assertion criteria provided | clinical testing |