ClinVar Miner

Submissions for variant NM_005862.3(STAG1):c.659A>G (p.His220Arg) (rs1057519153)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000416087 SCV000493354 uncertain significance not provided 2016-08-01 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000506678 SCV000605728 likely pathogenic STAG1-related disorder 2016-12-20 no assertion criteria provided clinical testing

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