ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1384C>T (p.Leu462=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003855062 SCV004662887 likely benign not provided 2023-09-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005013249 SCV005640529 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12 2024-02-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003893521 SCV004708982 likely benign VPS33B-related disorder 2021-03-10 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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