ClinVar Miner

Submissions for variant NM_001128929.3(ROBO2):c.2443G>A (p.Val815Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV001149179 SCV001310117 likely benign Vesicoureteral reflux 2 2017-11-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Institute of Human Genetics, University of Leipzig Medical Center RCV001290227 SCV001468584 uncertain significance 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: 23536131 with original nomenclature reported as c.2395 G-A p.Val799Ile. Variant was re-classified as Uncertain Significance based on the criteria PM2_Supporting.

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