ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) (rs111929073)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000087633 SCV000263806 likely pathogenic Ehlers-Danlos syndrome, type 4 2015-04-29 criteria provided, single submitter clinical testing
Collagen Diagnostic Laboratory,University of Washington RCV000087633 SCV000120524 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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