ClinVar Miner

Variants with conflicting interpretations "pathogenic" from GenePathDx, GenePath diagnostics and "likely pathogenic" from any submitter

Minimum review status of the submission from GenePathDx, GenePath diagnostics: Collection method of the submission from GenePathDx, GenePath diagnostics:
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 gnomAD frequency
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000053.4(ATP7B):c.3236G>T (p.Cys1079Phe) rs1064797072
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs) rs1064797076
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627

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