Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000513450 | SCV000608525 | likely pathogenic | not provided | 2017-03-01 | criteria provided, single submitter | clinical testing | |
EGL Genetic Diagnostics, |
RCV000513450 | SCV000705703 | pathogenic | not provided | 2017-02-09 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000672338 | SCV000797435 | likely pathogenic | Usher syndrome, type 2A; Retinitis pigmentosa 39 | 2018-01-25 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001073947 | SCV001239512 | likely pathogenic | Retinal dystrophy | 2018-07-27 | criteria provided, single submitter | clinical testing |