Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Chan Lab, |
RCV000156970 | SCV000206691 | likely pathogenic | Hypogonadotropic hypogonadism 7 with or without anosmia | 2014-11-01 | criteria provided, single submitter | case-control | |
Fulgent Genetics, |
RCV000763182 | SCV000893782 | likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001824283 | SCV002073968 | uncertain significance | not provided | 2022-01-20 | criteria provided, single submitter | clinical testing | Observed in other patients with isolated gonadotropin-releasing hormone deficiency or idiopathic hypogonadotropic hypogonadism in published literature; however, detailed information is not available and one patient harbored variants in other genes (Zhu J et al., 2015; Stamou M et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: Beneduzzi[article], 31628846, 25636053, 16882753, 23329143) |
Reproductive Endocrine Unit, |
RCV003234537 | SCV003932552 | likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia | 2023-05-04 | criteria provided, single submitter | research | The variant has been classified as LP2 based on the variant meeting the following ACMG Criteria: PS2,PM2. |
OMIM | RCV000030936 | SCV000037969 | risk factor | Hypogonadotropic hypogonadism 2 with anosmia | 2006-10-01 | no assertion criteria provided | literature only |