Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001463889 | SCV001667841 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome | 2020-03-26 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002478972 | SCV002799858 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2021-08-27 | criteria provided, single submitter | clinical testing |