ClinVar Miner

Submissions for variant NC_000005.10:g.139189727_139201554del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003857 SCV001162311 pathogenic Global developmental delay; Cataract; Ptosis; Cerebellar atrophy; Generalized hypotonia no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003858 SCV001162312 pathogenic Cataract; Constipation; Urinary incontinence; Apraxia; Strabismus; Generalized hypotonia no assertion criteria provided research

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