Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetics Department, |
RCV001009619 | SCV001169719 | uncertain significance | Isolated lutropin deficiency | 2020-03-08 | criteria provided, single submitter | research | variant was observed with the other variant in TACR3 gene (NM_001059.2:c.737+1G>A, MIM:614840 ), maternal origin, both observed in heterozygote status and in digenic pattern of inheritance for idiopatic hypogonadotropic hypogonadism/Kallmann syndrome |
Gene |
RCV001759689 | SCV001986383 | uncertain significance | not provided | 2020-02-21 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 32763379) |