Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000724730 | SCV000569224 | uncertain significance | not provided | 2019-06-29 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in an in-frame deletion of a critical region; Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001080356 | SCV000634502 | likely benign | Myopathy, centronuclear, 2 | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000724730 | SCV000700832 | uncertain significance | not provided | 2015-04-17 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000724730 | SCV001143164 | uncertain significance | not provided | 2018-09-05 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001080356 | SCV003829877 | uncertain significance | Myopathy, centronuclear, 2 | 2022-12-29 | criteria provided, single submitter | clinical testing |