Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000893759 | SCV001803096 | likely benign | not provided | 2021-08-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002065602 | SCV002403795 | benign | FGFR2-related craniosynostosis | 2023-10-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495406 | SCV002804335 | likely benign | Acrocephalosyndactyly type I; Beare-Stevenson cutis gyrata syndrome; Jackson-Weiss syndrome; Levy-Hollister syndrome; Pfeiffer syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Crouzon syndrome; Saethre-Chotzen syndrome; Familial scaphocephaly syndrome, McGillivray type; Bent bone dysplasia syndrome 1; Gastric cancer | 2021-07-27 | criteria provided, single submitter | clinical testing |