Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000725163 | SCV000334581 | uncertain significance | not provided | 2015-09-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000725163 | SCV000576858 | likely benign | not provided | 2020-06-17 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000725163 | SCV000613215 | likely benign | not provided | 2020-02-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001085921 | SCV000769856 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Mayo Clinic Laboratories, |
RCV000725163 | SCV001714593 | uncertain significance | not provided | 2023-01-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003939934 | SCV004752540 | likely benign | DYSF-related condition | 2019-07-03 | 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, |
RCV001276862 | SCV001463477 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2019-11-11 | no assertion criteria provided | clinical testing |