ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.4300C>T (p.Arg1434Cys) (rs747324731)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000243091 SCV000319364 uncertain significance Cardiovascular phenotype 2014-11-21 criteria provided, single submitter clinical testing Insufficient or inconclusive evidence
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770607 SCV000902057 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2017-03-01 criteria provided, single submitter clinical testing
Color RCV000770607 SCV001347938 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2020-02-19 criteria provided, single submitter clinical testing

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