Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Chan Lab, |
RCV000156951 | SCV000206672 | likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia | 2014-11-01 | criteria provided, single submitter | case-control | |
Chan Lab, |
RCV000156952 | SCV000206673 | likely pathogenic | Delayed puberty | 2014-11-01 | criteria provided, single submitter | case-control | |
Fulgent Genetics, |
RCV002505182 | SCV002800321 | likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2021-07-18 | criteria provided, single submitter | clinical testing | |
Reproductive Endocrine Unit, |
RCV003234546 | SCV003932536 | uncertain significance | Hypogonadotropic hypogonadism 2 with or without anosmia | 2023-05-04 | criteria provided, single submitter | research | The variant has been classified as VUS based on the variant meeting the following ACMG Criteria: PM2,PP3. |