ClinVar Miner

Submissions for variant NM_001733.7(C1R):c.1012T>C (p.Cys338Arg)

dbSNP: rs1057519577
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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 RCV000417066 SCV000494608 pathogenic Ehlers-Danlos syndrome, periodontal type 1 2016-08-23 criteria provided, single submitter research
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000417066 SCV004099186 pathogenic Ehlers-Danlos syndrome, periodontal type 1 2023-09-28 criteria provided, single submitter clinical testing PS3 PM2 PM1 PS4_Supporting PP3 Path
University of Washington Center for Mendelian Genomics, University of Washington RCV000755117 SCV000882937 likely pathogenic Ehlers-Danlos syndrome, periodontal type 2 2016-10-13 no assertion criteria provided research

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