ClinVar Miner

Submissions for variant NM_000090.4(COL3A1):c.2298T>G (p.Pro766=)

dbSNP: rs1278002435
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Total submissions: 2
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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 RCV001170894 SCV001333519 likely benign Familial thoracic aortic aneurysm and aortic dissection 2017-11-03 criteria provided, single submitter clinical testing
Invitae RCV003523062 SCV004300581 likely benign Ehlers-Danlos syndrome, type 4 2022-12-31 criteria provided, single submitter clinical testing

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