Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000299980 | SCV000339226 | likely benign | not specified | 2017-04-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000711565 | SCV000525509 | likely benign | not provided | 2019-03-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001084840 | SCV000649712 | benign | Qualitative or quantitative defects of dysferlin | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000711565 | SCV000841944 | benign | not provided | 2017-12-11 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000711565 | SCV004154975 | likely benign | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | DYSF: BP4, BP7 |
Prevention |
RCV003947912 | SCV004765158 | likely benign | DYSF-related condition | 2019-11-15 | 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). |