Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000728533 | SCV000856123 | uncertain significance | not provided | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001407774 | SCV001609756 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2023-09-08 | criteria provided, single submitter | clinical testing |