Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000082179 | SCV000114125 | benign | not specified | 2012-09-21 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV000082179 | SCV000151164 | benign | not specified | 2015-11-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001081711 | SCV000290701 | benign | Walker-Warburg congenital muscular dystrophy | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000082179 | SCV000314270 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Gene |
RCV000082179 | SCV000513039 | benign | not specified | 2015-07-24 | 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 Inc | RCV000576800 | SCV000677300 | benign | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5; Limb-girdle muscular dystrophy-dystroglycanopathy, type C5; Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 2017-05-24 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000757298 | SCV000885463 | benign | none provided | 2020-01-31 | criteria provided, single submitter | clinical testing |