ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski and "uncertain significance" from any submitter

Minimum review status of the submission from Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski: Collection method of the submission from Molecular Diagnostics, Microbiology, Virology, Parasitology and Genetics, Sofia University, St. Kliment Ohridski:
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_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001

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