ClinVar Miner

Variants with conflicting interpretations "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: 5
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HGVS dbSNP
NM_001374258.1(BRAF):c.1511G>A (p.Gly504Glu) rs121913348
NM_001374258.1(BRAF):c.722C>A (p.Thr241Lys) rs387906660
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022

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