Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000712816 | SCV000703328 | uncertain significance | not provided | 2018-05-18 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000595892 | SCV000725716 | likely benign | not specified | 2017-12-19 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Athena Diagnostics | RCV000712816 | SCV000843350 | likely benign | not provided | 2018-08-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087695 | SCV001097603 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing |