ClinVar Miner

Submissions for variant NM_001128929.3(ROBO2):c.383C>T (p.Ala128Val) (rs780623744)

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Total submissions: 2
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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 RCV000416566 SCV000265653 uncertain significance Vesicoureteral reflux 2 criteria provided, single submitter research
Institute of Human Genetics, University of Leipzig Medical Center RCV001290213 SCV001468575 likely 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.C335T, p.A112V. Variant was re-classified as Likely Benign based on the criteria PM1_Moderate, PM2_Supporting, BS1_Moderate, BS2_Moderate.

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