ClinVar Miner

Submissions for variant NM_001365276.2(TNXB):c.5362del (p.Thr1788fs)

dbSNP: rs1778646780
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Biology and Genetics, University of Brescia RCV001290388 SCV001478098 pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency criteria provided, single submitter clinical testing

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