ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital and "pathogenic" from Department of Otolaryngology – Head & Neck Surgery,Cochlear Implant Center

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_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622

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