ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne and "likely pathogenic" from Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Minimum review status of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne: Collection method of the submission from Equipe Genetique des Anomalies du Developpement, Université de Bourgogne:
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_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) rs1165205177

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