ClinVar Miner

Submissions for variant NM_014423.4(AFF4):c.761C>G (p.Thr254Ser) (rs786205679)

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Total submissions: 2
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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 RCV000170516 SCV001554484 likely pathogenic Chops syndrome criteria provided, single submitter clinical testing
OMIM RCV000170516 SCV000222948 pathogenic Chops syndrome 2015-04-01 no assertion criteria provided literature only

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