ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1749C>T (p.Ala583=)

gnomAD frequency: 0.00005  dbSNP: rs201436915
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000342778 SCV000342098 uncertain significance not provided 2017-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000342778 SCV001123999 likely benign not provided 2024-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000342778 SCV001778360 likely benign not provided 2020-06-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003949909 SCV004775775 likely benign VPS33B-related disorder 2022-03-21 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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