ClinVar Miner

Submissions for variant NM_001128929.3(ROBO2):c.2479C>T (p.Arg827Trp) (rs188582283)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000416589 SCV000265652 uncertain significance Vesicoureteral reflux 2 criteria provided, single submitter research
Illumina Clinical Services Laboratory,Illumina RCV000416589 SCV000446188 benign Vesicoureteral reflux 2 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV000882595 SCV001025843 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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