Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440153 | SCV000535847 | likely benign | not specified | 2017-01-10 | 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. |
Invitae | RCV001080294 | SCV000649678 | likely benign | Qualitative or quantitative defects of dysferlin | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711558 | SCV000841937 | likely benign | not provided | 2017-10-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003970247 | SCV004777138 | likely benign | DYSF-related condition | 2019-08-29 | 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). |