Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002282500 | SCV002571541 | uncertain significance | not provided | 2022-02-07 | criteria provided, single submitter | clinical testing | Reported heterozygous in a female with premature ovarian failure (Wang et al., 2010); Published functional studies demonstrate significantly reduced activation of the SMAD pathways (Rossetti et al., 2020); 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: 19438907, 31957178, 29544636, 34426522) |
Lab of Endocrine and Metabolic Research, |
RCV001249554 | SCV001423528 | likely pathogenic | Ovarian dysgenesis 2 | 2019-12-01 | no assertion criteria provided | research |