Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514316 | SCV000609672 | uncertain significance | not provided | 2017-08-15 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002481655 | SCV002779369 | uncertain significance | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2022-05-17 | criteria provided, single submitter | clinical testing |