ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.12512G>A (p.Arg4171His)

gnomAD frequency: 0.00415  dbSNP: rs544604053
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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 RCV000416571 SCV000265659 uncertain significance Vesicoureteral reflux 8 criteria provided, single submitter research
GeneDx RCV001564320 SCV001787467 likely benign not provided 2018-11-20 criteria provided, single submitter clinical testing

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