Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001797298 | SCV002038742 | likely benign | not provided | 2021-06-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002506831 | SCV002804764 | 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 | 2021-11-05 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002544341 | SCV002997775 | likely benign | FGFR2-related craniosynostosis | 2022-09-30 | criteria provided, single submitter | clinical testing |