Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726558 | SCV000345480 | uncertain significance | not provided | 2016-09-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726558 | SCV000723528 | likely benign | not provided | 2019-11-08 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 18853459) |
Invitae | RCV001086499 | SCV001019134 | benign | Qualitative or quantitative defects of dysferlin | 2024-01-25 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001835773 | SCV002079837 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-02-05 | no assertion criteria provided | clinical testing |