Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003768738 | SCV001020577 | likely benign | FGFR2-related craniosynostosis | 2023-11-18 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495326 | SCV002799238 | 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 | 2021-12-06 | criteria provided, single submitter | clinical testing |