ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.1142G>A (p.Gly381Asp)

dbSNP: rs587779544
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV004791266 SCV005413539 pathogenic not provided 2023-12-21 criteria provided, single submitter clinical testing PP2, PP3, PP4, PM1_strong, PM2, PS4_moderate
Collagen Diagnostic Laboratory, University of Washington RCV000087485 SCV000120372 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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