ClinVar Miner

Submissions for variant NM_001733.7(C1R):c.905A>G (p.Tyr302Cys)

dbSNP: rs1057519576
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Medical University Innsbruck RCV000417060 SCV000494605 pathogenic Ehlers-Danlos syndrome, periodontal type 1 2016-08-23 criteria provided, single submitter research
University of Washington Center for Mendelian Genomics, University of Washington RCV000755114 SCV000882934 likely pathogenic Ehlers-Danlos syndrome, periodontal type 2 2016-10-13 no assertion criteria provided research

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