ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.3774C>T (p.Pro1258=) (rs149790711)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461670 SCV000554712 benign Ehlers-Danlos syndrome, type 4 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617873 SCV000738398 benign Cardiovascular phenotype 2015-09-09 criteria provided, single submitter clinical testing
Color RCV001178581 SCV001343057 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-11-27 criteria provided, single submitter clinical testing

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