ClinVar Miner

Variants in gene POLE with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP
NM_006231.3(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.3(POLE):c.3373C>T (p.Arg1125Ter) rs139603739
NM_006231.3(POLE):c.6623del (p.Gln2208fs) rs1555301070

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