ClinVar Miner

Submissions for variant NM_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) (rs1165205177)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000505191 SCV000965744 pathogenic Xia-Gibbs syndrome 2016-01-01 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000505191 SCV000599238 likely pathogenic Xia-Gibbs syndrome 2016-03-23 no assertion criteria provided clinical testing
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000505191 SCV001480346 pathogenic Xia-Gibbs syndrome no assertion criteria provided clinical testing

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