ClinVar Miner

Submissions for variant NM_001733.7(C1R):c.1113C>G (p.Cys371Trp) (rs1057519579)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Medical University Innsbruck RCV000417063 SCV000494611 pathogenic Ehlers-Danlos syndrome, type 8 2016-08-23 criteria provided, single submitter research
University of Washington Center for Mendelian Genomics, University of Washington RCV000755120 SCV000882940 likely pathogenic Ehlers-Danlos syndrome, periodontal type, 2 2016-10-13 no assertion criteria provided research

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