ClinVar Miner

Submissions for variant NM_172362.3(KCNH1):c.1480A>G (p.Ile494Val) (rs727502819)

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Total submissions: 4
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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 RCV000677640 SCV000803770 pathogenic Zimmermann-Laband syndrome 1; Temple-Baraitser syndrome 2017-08-04 criteria provided, single submitter clinical testing
OMIM RCV000149910 SCV000196761 pathogenic Temple-Baraitser syndrome 2015-01-01 no assertion criteria provided literature only
Reparto di Fisiopatologia delle Malattie Genetiche, Dipartimento di Ematologia, Oncologia; Istituto Superiore di Sanità RCV000185590 SCV000212228 pathogenic Zimmermann-Laband syndrome 1 no assertion criteria provided not provided Converted during submission to Pathogenic.
OMIM RCV000185590 SCV000238499 pathogenic Zimmermann-Laband syndrome 1 2015-06-01 no assertion criteria provided literature only

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