ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1331C>T (p.Thr444Met)

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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 RCV005017432 SCV005642637 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-06-03 criteria provided, single submitter clinical testing

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