ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3472G>C (p.Gly1158Arg) (rs587779715)

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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 RCV000087723 SCV000120616 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute RCV000623577 SCV000740559 likely pathogenic Loeys-Dietz syndrome 2016-09-22 criteria provided, single submitter clinical testing

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