Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Knight Diagnostic Laboratories, |
RCV000192446 | SCV000223922 | likely pathogenic | Bardet-Biedl syndrome; Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 | 2014-08-21 | no assertion criteria provided | clinical testing |