Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001518855 | SCV001727629 | benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome | 2023-08-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002501811 | SCV002810708 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2021-09-03 | criteria provided, single submitter | clinical testing |