Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000301411 | SCV000338043 | uncertain significance | not provided | 2017-10-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001082288 | SCV000649704 | likely benign | Qualitative or quantitative defects of dysferlin | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000301411 | SCV001820685 | likely benign | not provided | 2020-11-09 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 24838345, 26077850, 18853459, 25312915) |
Revvity Omics, |
RCV000301411 | SCV003830888 | uncertain significance | not provided | 2023-10-18 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001833344 | SCV002079753 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-01-23 | no assertion criteria provided | clinical testing |