ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen and "pathogenic" from Invitae

Minimum review status of the submission from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen: Collection method of the submission from ClinGen Platelet Disorders Variant Curation Expert Panel, ClinGen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_000419.5(ITGA2B):c.2915_2916delinsT (p.Pro972fs) rs2048523750
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255

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