Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726733 | SCV000702568 | uncertain significance | not provided | 2016-10-11 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000595699 | SCV000732535 | likely benign | not specified | 2017-06-15 | 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. |
Invitae | RCV001087381 | SCV000769874 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2023-12-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001087381 | SCV002049530 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2D | 2020-10-20 | criteria provided, single submitter | clinical testing |