ClinVar Miner

Submissions for variant NM_001174147.2(LMX1B):c.745C>G (p.Arg249Gly)

dbSNP: rs121909492
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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 RCV000824858 SCV000965760 likely pathogenic Nail-patella syndrome 2014-01-01 criteria provided, single submitter clinical testing

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