Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV001030084 | SCV001192876 | benign | RASopathy | 2019-11-04 | reviewed by expert panel | curation | The c.-339_-338delAG variant in RAF1 is classified as benign because it has been identified in 0.33579% (95% CI of 63/15050) of non-Finnish European alleles in gnomAD (BA1; https://gnomad.broadinstitute.org). This variant is not located within the splice consensus sequence and computational splice site prediction tools do not predict an impact on splicing (BP4, BP7). This variant was identified in 4 individuals with Noonan syndrome who carried additional pathogenic variants in PTPN11 sufficient to explain their clinical presentations (BP5). ACMG/AMP Criteria applied: BA1, BP4, BP5, BP7. |
Laboratory for Molecular Medicine, |
RCV000151724 | SCV000200058 | likely benign | not specified | 2011-12-21 | criteria provided, single submitter | clinical testing | -337_-336delAG in 5'UTR of exon 1 of RAF1: This variant has been identified in o ur laboratory in one individual who is reportedly unaffected with the clinical f eatures of the Noonan spectrum as well as five other probands with Noonan spectr um features who have a pathogenic PTPN11 variant. This variant occurs in the non -coding first exon of the gene. No variants in this region of RAF1 have been sho wn to be pathogenic to date. Therefore, this variant is not expected to have cli nical or pathological significance. |
Illumina Laboratory Services, |
RCV000339461 | SCV000440657 | uncertain significance | Noonan syndrome with multiple lentigines | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV000399170 | SCV000440658 | uncertain significance | Noonan syndrome | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002496501 | SCV002807078 | likely benign | LEOPARD syndrome 2; Noonan syndrome 5; Dilated cardiomyopathy 1NN | 2021-11-08 | criteria provided, single submitter | clinical testing |