ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini and "uncertain significance" from any submitter

Minimum review status of the submission from UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini: Collection method of the submission from UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini:
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_006031.6(PCNT):c.9661C>T (p.Arg3221Trp) rs141304187 0.00024

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