ClinVar Miner

Submissions for variant NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys)

dbSNP: rs786205133
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Total submissions: 3
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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 RCV001526527 SCV001736949 pathogenic Global developmental delay criteria provided, single submitter clinical testing
Department of Clinical Science, University of Bergen RCV000170337 SCV000172707 likely pathogenic Non-syndromic X-linked intellectual disability no assertion criteria provided research
OMIM RCV000207499 SCV000263035 pathogenic Intellectual disability, X-linked 61 2015-03-04 no assertion criteria provided literature only

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