ClinVar Miner

Submissions for variant NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln)

gnomAD frequency: 0.00158  dbSNP: rs145070485
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000951324 SCV001097715 benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001120709 SCV001279212 likely benign Arthrogryposis, renal dysfunction, and cholestasis 1 2018-01-13 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000951324 SCV001334806 likely benign not provided 2022-12-01 criteria provided, single submitter clinical testing VPS33B: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003960628 SCV004773633 benign VPS33B-related condition 2020-05-04 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000951324 SCV001740649 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000951324 SCV001931318 likely benign not provided no assertion criteria provided clinical testing

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