Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000117037 | SCV000151160 | benign | not specified | 2013-04-16 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000117037 | SCV000168554 | benign | not specified | 2014-04-01 | 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 | RCV000227021 | SCV000290694 | benign | Walker-Warburg congenital muscular dystrophy | 2019-12-31 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000117037 | SCV000314264 | benign | not specified | criteria provided, single submitter | clinical testing | ||
Athena Diagnostics Inc | RCV000576519 | SCV000677299 | 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 | 2017-05-19 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001284752 | SCV001470734 | benign | none provided | 2019-11-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001272536 | SCV001454626 | benign | Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 | 2020-09-16 | no assertion criteria provided | clinical testing |