ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from ClinGen RASopathy Variant Curation Expert Panel and "pathogenic" 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: 3
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HGVS dbSNP
NM_001354689.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002834.4(PTPN11):c.782T>A (p.Leu261His) rs765642157

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