ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1780A>G (p.Arg594Gly)

gnomAD frequency: 0.00004  dbSNP: rs868354713
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329687 SCV001521197 uncertain significance Arthrogryposis, renal dysfunction, and cholestasis 1 2019-11-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Pathology and Clinical Laboratory Medicine, King Fahad Medical City RCV001824173 SCV002073857 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275359 SCV002563273 uncertain significance not provided 2022-07-01 criteria provided, single submitter clinical testing VPS33B: PM2, BP4
Revvity Omics, Revvity RCV002275359 SCV004237527 uncertain significance not provided 2023-02-14 criteria provided, single submitter clinical testing

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