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

Total submissions: 4

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
Institute of Human Genetics, University of Leipzig Medical Center	RCV001290229	SCV001468586	benign	Congenital anomalies of kidney and urinary tract	2021-01-09	criteria provided, single submitter	curation	This ROBO2 variant was reported as Uncertain Significance in PMID: 27657687 with original nomenclature reported as c.C2431T, p.R811W. Variant was re-classified as Benign based on the criteria PP3_Supporting, BA1_StandAlone.