ClinVar Miner

Variants with conflicting interpretations "pathogenic" from The Laboratory of Genetics and Metabolism, Hunan Children’s Hospital and "uncertain significance" from any submitter

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: 2
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HGVS dbSNP
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925
NM_014270.5(SLC7A9):c.1399+2dup rs755715459

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