Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000724239 | SCV000230240 | uncertain significance | not provided | 2014-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000178220 | SCV000526871 | likely benign | not specified | 2018-01-03 | 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. |
Genetic Services Laboratory, |
RCV000178220 | SCV000595562 | uncertain significance | not specified | 2016-01-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081988 | SCV000761731 | benign | Muscular dystrophy-dystroglycanopathy type B6 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000178220 | SCV001879946 | likely benign | not specified | 2021-04-23 | criteria provided, single submitter | clinical testing |