Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV001262823 | SCV001440831 | uncertain significance | Hartsfield-Bixler-Demyer syndrome | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002486008 | SCV002792832 | uncertain significance | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2021-07-13 | criteria provided, single submitter | clinical testing |