ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val)

dbSNP: rs587779512
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508126 SCV001714068 likely pathogenic not provided 2020-06-18 criteria provided, single submitter clinical testing PS4_moderate, PM1, PM2, PP2, PP3, PP4
Collagen Diagnostic Laboratory, University of Washington RCV000087600 SCV000120490 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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