ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Laboratorio de Medicina Genomica, Hospital General de Culiacan and "likely pathogenic" from any submitter

Minimum review status of the submission from Laboratorio de Medicina Genomica, Hospital General de Culiacan: Collection method of the submission from Laboratorio de Medicina Genomica, Hospital General de Culiacan:
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_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001

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