ClinVar Miner

Variants with conflicting interpretations "likely benign" from ClinGen RASopathy Variant Curation Expert Panel and "uncertain significance" from any submitter

Minimum review status of the submission from ClinGen RASopathy Variant Curation Expert Panel: Collection method of the submission from ClinGen RASopathy Variant Curation Expert Panel:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 15
Download table as spreadsheet
HGVS dbSNP
NM_001354689.3(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_001354689.3(RAF1):c.66T>G (p.Phe22Leu) rs397516824
NM_001354689.3(RAF1):c.680+6T>C rs371846795
NM_001354689.3(RAF1):c.967A>G (p.Thr323Ala) rs775898894
NM_001374258.1(BRAF):c.92C>G (p.Ala31Gly) rs397516906
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.5(PTPN11):c.333-3T>C rs146749153
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.2156G>C (p.Gly719Ala) rs200794965
NM_005633.3(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844
NM_005633.3(SOS1):c.350T>G (p.Val117Gly) rs201085754
NM_005633.3(SOS1):c.899G>A (p.Arg300Gln) rs754374236
NM_030662.3(MAP2K2):c.818A>G (p.Lys273Arg) rs539555837
NM_030662.3(MAP2K2):c.847G>T (p.Val283Leu) rs185999703

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.