Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001724276 | SCV001990648 | uncertain significance | not provided | 2021-03-15 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32666525, 30098700) |
Reproductive Endocrine Unit, |
RCV001251091 | SCV003932521 | likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia | 2023-05-04 | criteria provided, single submitter | research | |
Department of Urology, |
RCV001251091 | SCV001426680 | likely pathogenic | Hypogonadotropic hypogonadism 2 with or without anosmia | no assertion criteria provided | research | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001724276 | SCV001957075 | pathogenic | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001724276 | SCV001970569 | likely pathogenic | not provided | no assertion criteria provided | clinical testing |