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: 10
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_002880.4(RAF1):c.66T>G (p.Phe22Leu) rs397516824 0.00006
NM_004333.6(BRAF):c.92C>G (p.Ala31Gly) rs397516906 0.00006
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965

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