ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.204C>T (p.Asp68=) (rs368299739)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000472389 SCV000554719 likely benign Ehlers-Danlos syndrome, type 4 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620027 SCV000738551 likely benign Cardiovascular phenotype 2017-12-12 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Color RCV001189982 SCV001357383 likely benign Familial thoracic aortic aneurysm and aortic dissection 2019-09-30 criteria provided, single submitter clinical testing

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