ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" 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: 7
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HGVS dbSNP
NM_001374258.1(BRAF):c.1715G>A (p.Cys572Tyr) rs397507479
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002834.4(PTPN11):c.167T>C (p.Ile56Thr) rs1052382672
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005633.3(SOS1):c.1655G>T (p.Arg552Met) rs397517154
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026

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