ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp)

dbSNP: rs121912927
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001170886 SCV001333509 likely pathogenic Familial thoracic aortic aneurysm and aortic dissection 2017-12-29 criteria provided, single submitter clinical testing
OMIM RCV000018748 SCV000039031 pathogenic Ehlers-Danlos syndrome, type 4 2000-03-09 no assertion criteria provided literature only
Collagen Diagnostic Laboratory, University of Washington RCV000018748 SCV000120315 pathogenic Ehlers-Danlos syndrome, type 4 no assertion criteria provided clinical testing

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