Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002106134 | SCV002435449 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome | 2023-12-22 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002494362 | SCV002799352 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2022-04-14 | criteria provided, single submitter | clinical testing |