Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000260045 | SCV000338318 | uncertain significance | not provided | 2016-01-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001088177 | SCV000769854 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-24 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000260045 | SCV003830842 | uncertain significance | not provided | 2023-06-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003940005 | SCV004758606 | likely benign | DYSF-related condition | 2022-01-03 | 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, |
RCV001274850 | SCV001459366 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-01-07 | no assertion criteria provided | clinical testing |