ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Center for Medical Genetics, GenVams Trust and "likely pathogenic" from any submitter

Minimum review status of the submission from Center for Medical Genetics, GenVams Trust: Collection method of the submission from Center for Medical Genetics, GenVams Trust:
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_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001

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