ClinVar Miner

Submissions for variant NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)

dbSNP: rs1589088690
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Undiagnosed Diseases Program Translational Research Laboratory, National Institutes of Health RCV000855660 SCV000920634 likely pathogenic Congenital cerebellar hypoplasia; Epilepsy; Congenital ocular coloboma; Intellectual disability; Dysmorphism; Developmental delay 2019-05-06 criteria provided, single submitter research
Laboratory of Medical Genetics, University of Torino RCV000855666 SCV002760100 pathogenic Neurooculocardiogenitourinary syndrome 2022-11-29 criteria provided, single submitter research
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000855666 SCV002765128 likely pathogenic Neurooculocardiogenitourinary syndrome 2022-12-20 criteria provided, single submitter clinical testing
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000855666 SCV004847233 pathogenic Neurooculocardiogenitourinary syndrome 2022-07-18 criteria provided, single submitter clinical testing
OMIM RCV000855666 SCV000998805 pathogenic Neurooculocardiogenitourinary syndrome 2019-11-05 no assertion criteria provided literature only

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