ClinVar Miner

Variants with conflicting interpretations "likely benign" from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli and "uncertain significance" from any submitter

Minimum review status of the submission from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli: Collection method of the submission from Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1
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HGVS dbSNP gnomAD frequency
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003

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