Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000382404 | SCV000332601 | pathogenic | not provided | 2016-10-24 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000989294 | SCV001139559 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000989294 | SCV001581782 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2A | 2021-08-28 | criteria provided, single submitter | clinical testing |