Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Lab, |
RCV000207510 | SCV000263067 | likely pathogenic | not provided | 2015-07-22 | criteria provided, single submitter | clinical testing | |
Laboratory of Molecular Genetics |
RCV000207510 | SCV000920479 | pathogenic | not provided | 2018-04-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000207510 | SCV001776362 | likely pathogenic | not provided | 2020-09-21 | criteria provided, single submitter | clinical testing | The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 17551924, 33482860, 24803665, 23093928, 19206169, 26150740, 24458522) |
Institute of Human Genetics, |
RCV001781616 | SCV002026341 | pathogenic | Noonan syndrome 7 | 2021-10-25 | criteria provided, single submitter | clinical testing | This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PS2, PM5_STR, PS4_MOD, PM1, PM2_SUP, PP3 |