ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and "uncertain significance" from Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Minimum review status of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital: Collection method of the submission from Clinical Molecular Genetics Laboratory,Johns Hopkins All 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
NM_000267.3(NF1):c.3916C>T (p.Arg1306Ter) rs376576925

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