ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1283del (p.Pro428fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017433 SCV005643370 likely pathogenic Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-05-09 criteria provided, single submitter clinical testing

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