Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002040746 | SCV002303632 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492357 | SCV002782611 | uncertain significance | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2022-04-25 | criteria provided, single submitter | clinical testing |