Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000175100 | SCV000226530 | uncertain significance | not provided | 2014-08-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000695456 | SCV000823955 | likely benign | Jeune thoracic dystrophy; Nephronophthisis | 2024-01-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002485132 | SCV002777954 | uncertain significance | Asphyxiating thoracic dystrophy 4; Nephronophthisis 12 | 2022-01-07 | criteria provided, single submitter | clinical testing |