Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000688372 | SCV000815980 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001662753 | SCV001874420 | benign | not provided | 2021-05-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002493162 | SCV002796261 | likely benign | Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 | 2022-01-11 | criteria provided, single submitter | clinical testing |