ClinVar Miner

Submissions for variant NM_001007527.2(LMBRD2):c.1447C>T (p.Arg483Cys)

dbSNP: rs1743709062
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Total submissions: 2
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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 RCV003151845 SCV003840250 likely pathogenic Developmental delay with variable neurologic and brain abnormalities 2020-09-23 criteria provided, single submitter research
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV001261973 SCV001439330 likely pathogenic Motor delay; Dysmorphic features; Developmental delay; brain structure abnormalities 2020-09-22 no assertion criteria provided clinical testing

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