Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000367352 | SCV000345224 | uncertain significance | not provided | 2016-08-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001392641 | SCV001594287 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000367352 | SCV004156576 | likely benign | not provided | 2022-10-01 | criteria provided, single submitter | clinical testing | POMT1: BP4, BP7 |