ClinVar Miner

Variants with conflicting interpretations "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: 4
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HGVS dbSNP
NM_001354689.3(RAF1):c.94A>G (p.Ile32Val) rs372738063
NM_002755.4(MAP2K1):c.848C>T (p.Ala283Val) rs144080051
NM_002834.4(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_005633.3(SOS1):c.1018C>T (p.Pro340Ser) rs190222208

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