ClinVar Miner

Submissions for variant NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)

dbSNP: rs1057519521
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000416978 SCV000494491 pathogenic Hypotonia, ataxia, and delayed development syndrome 2017-02-07 no assertion criteria provided literature only
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003596 SCV001161990 pathogenic Global developmental delay; Constipation; Abnormal facial shape; Recurrent urinary tract infections; Vesicoureteral reflux; Generalized hypotonia; Growth abnormality no assertion criteria provided research

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