ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg)

dbSNP: rs587779638
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetics and Molecular Pathology, SA Pathology RCV000087608 SCV002761704 pathogenic Ehlers-Danlos syndrome, type 4 2021-12-01 criteria provided, single submitter clinical testing
Collagen Diagnostic Laboratory, University of Washington RCV000087608 SCV000120498 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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