ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.9770C>T (p.Thr3257Ile)

gnomAD frequency: 0.00002  dbSNP: rs587777683
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001312052 SCV001502484 uncertain significance not provided 2020-09-01 criteria provided, single submitter clinical testing
OMIM RCV000133610 SCV000188668 pathogenic Vesicoureteral reflux 8 2013-07-01 no assertion criteria provided literature only

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