ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine and "likely pathogenic" from any submitter

Minimum review status of the submission from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine: Collection method of the submission from Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_016955.4(SEPSECS):c.114+3A>G

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