Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
EGL Genetic Diagnostics, |
RCV000723676 | SCV000112847 | uncertain significance | not provided | 2017-12-29 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV000242148 | SCV000310179 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Illumina Clinical Services Laboratory, |
RCV000347648 | SCV000428798 | likely benign | Collagen VI-related myopathy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000653620 | SCV000775503 | likely benign | Bethlem myopathy 1 | 2018-01-03 | criteria provided, single submitter | clinical testing |