ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val)

dbSNP: rs587779709
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Collagen Diagnostic Laboratory, University of Washington RCV000087715 SCV000120608 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
Blueprint Genetics RCV000087715 SCV000188741 likely pathogenic Ehlers-Danlos syndrome, type 4 2013-11-18 no assertion criteria provided clinical testing

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