Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000416589 | SCV000265652 | uncertain significance | Vesicoureteral reflux 2 | criteria provided, single submitter | research | ||
Illumina Clinical Services Laboratory, |
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, |
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. |