Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002219578 | SCV002376536 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome | 2022-04-07 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV002227292 | SCV002506269 | likely benign | not provided | 2022-02-11 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498260 | SCV002796805 | likely benign | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2021-10-20 | criteria provided, single submitter | clinical testing |