Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002055377 | SCV002394397 | likely benign | FGFR2-related craniosynostosis | 2023-12-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477320 | SCV002802297 | 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 | 2021-08-28 | criteria provided, single submitter | clinical testing | |
ITMI | RCV000122408 | SCV000083959 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |