Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV004784872 | SCV005397080 | likely pathogenic | Noonan syndrome 1 | 2024-10-11 | criteria provided, single submitter | clinical testing | Criteria applied: PM1,PM2,PS4_SUP,PP2,PP3 |
Gene |
RCV005001476 | SCV005626610 | likely pathogenic | not provided | 2024-07-08 | criteria provided, single submitter | clinical testing | Reported previously in a patient with a suspected genetic disorder; however, no clinical or segregation information was provided (PMID: 32978145); Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are a common cause of disease and they are underrepresented in the general population; 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: 11992261, 9491886, 16053901, 29493581, 16717135, 32978145) |