ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)

dbSNP: rs760262127
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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 RCV000677705 SCV000803855 likely pathogenic Intellectual disability, autosomal recessive 18 2017-06-22 criteria provided, single submitter clinical testing

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