ClinVar Miner

Submissions for variant NM_001733.7(C1R):c.899T>C (p.Leu300Pro) (rs1057515579)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Medical University Innsbruck RCV000258067 SCV000494603 pathogenic Ehlers-Danlos syndrome, type 8 2016-08-23 criteria provided, single submitter research
OMIM RCV000258067 SCV000328238 pathogenic Ehlers-Danlos syndrome, type 8 2016-10-31 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755112 SCV000882932 likely pathogenic Ehlers-Danlos syndrome, periodontal type, 2 2016-10-13 no assertion criteria provided research

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