Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001518394 | SCV001727072 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495816 | SCV002798858 | likely benign | Orofaciodigital syndrome I; Retinitis pigmentosa 23; Simpson-Golabi-Behmel syndrome type 2; Joubert syndrome 10 | 2021-07-26 | criteria provided, single submitter | clinical testing |