Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002084361 | SCV002421146 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome | 2023-09-12 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002508063 | SCV002806291 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2021-10-12 | criteria provided, single submitter | clinical testing |