ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2977G>T (p.Gly993Cys)

dbSNP: rs587779416
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Collagen Diagnostic Laboratory, University of Washington RCV000087338 SCV000120218 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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