ClinVar Miner

Submissions for variant NM_001128929.3(ROBO2):c.3754G>A (p.Ala1252Thr) (rs267607015)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001290231 SCV001468589 uncertain significance Congenital anomalies of kidney and urinary tract 2021-01-09 criteria provided, single submitter curation This ROBO2 variant was reported as Pathogenic​ in PMID: 17357069 with original nomenclature reported as c.4349G->A, A1236T. Variant was re-classified as Uncertain Significance based on the criteria PM2_Supporting.
OMIM RCV000007522 SCV000027723 pathogenic Vesicoureteral reflux 2 2007-04-01 no assertion criteria provided literature only

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