Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Soonchunhyang University Bucheon Hospital, |
RCV000490473 | SCV000267420 | uncertain significance | Joubert syndrome 4; Nephronophthisis 1; Senior-Loken syndrome 1 | 2016-03-18 | criteria provided, single submitter | reference population | |
EGL Genetic Diagnostics, |
RCV000728486 | SCV000856065 | likely benign | not specified | 2017-08-07 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostics Laboratory, |
RCV000144477 | SCV000189612 | uncertain significance | Leber congenital amaurosis | 2014-09-18 | no assertion criteria provided | clinical testing |