Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519768 | SCV000620218 | pathogenic | not provided | 2023-05-05 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); 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: 31623504, 32005694, 28650561, 15488754, 15520807, 16439621, 17603483, 24957944, 29493581) |
Centre for Mendelian Genomics, |
RCV000626860 | SCV000747563 | likely pathogenic | Global developmental delay | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001813496 | SCV002060718 | uncertain significance | Noonan syndrome and Noonan-related syndrome | 2017-07-25 | criteria provided, single submitter | clinical testing |