ClinVar Miner

Variants with conflicting interpretations "pathogenic" from The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital and "likely pathogenic" from Genome Diagnostics Laboratory, The Hospital for Sick Children

Minimum review status of the submission from The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital: Collection method of the submission from The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital:
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_001042492.3(NF1):c.6401_6402del (p.Cys2134fs) rs1597843186

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