Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002064572 | SCV002331771 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome | 2021-12-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002495278 | SCV002801077 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2021-12-30 | criteria provided, single submitter | clinical testing |