ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser)

gnomAD frequency: 0.58143  dbSNP: rs11073964
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000253189 SCV000313250 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000989400 SCV000394445 benign Arthrogryposis, renal dysfunction, and cholestasis 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Mendelics RCV000989400 SCV001139718 benign Arthrogryposis, renal dysfunction, and cholestasis 1 2019-05-28 criteria provided, single submitter clinical testing
GeneDx RCV001709550 SCV001937733 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001709550 SCV002408372 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000989400 SCV002514508 benign Arthrogryposis, renal dysfunction, and cholestasis 1 2021-12-05 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001709550 SCV005295520 benign not provided criteria provided, single submitter not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000253189 SCV001741594 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000253189 SCV001959874 benign not specified no assertion criteria provided clinical testing

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