ClinVar Miner

Submissions for variant NM_018668.4(VPS33B):c.1130G>C (p.Arg377Pro) (rs864622006)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Research Center for Immunodeficiencies,Tehran University of Medical Sciences RCV000204599 SCV000258931 association Arthrogryposis, renal dysfunction, and cholestasis 1 2015-04-01 no assertion criteria provided research

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