ClinVar Miner

Submissions for variant NM_001733.7(C1R):c.902G>C (p.Arg301Pro)

dbSNP: rs760277934
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, Medical University Innsbruck RCV000258069 SCV000494604 pathogenic Ehlers-Danlos syndrome, periodontal type 1 2016-08-23 criteria provided, single submitter research
OMIM RCV000258069 SCV000328236 pathogenic Ehlers-Danlos syndrome, periodontal type 1 2016-10-31 no assertion criteria provided literature only
University of Washington Center for Mendelian Genomics, University of Washington RCV000755113 SCV000882933 likely pathogenic Ehlers-Danlos syndrome, periodontal type 2 2016-10-13 no assertion criteria provided research

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