Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001481296 | SCV001685638 | likely benign | Asphyxiating thoracic dystrophy 5; Senior-Loken syndrome 8 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501660 | SCV002809648 | likely benign | Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 | 2022-04-18 | criteria provided, single submitter | clinical testing |