ClinVar Miner

Submissions for variant NM_001830.4(CLCN4):c.2051C>T (p.Pro684Leu) (rs1246068842)

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Total submissions: 1
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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 RCV001027719 SCV001190303 likely pathogenic Mental retardation 49, X-linked 2019-08-09 no assertion criteria provided clinical testing

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