ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.1348-4del (rs758567906)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000181050 SCV000233325 benign Familial thoracic aortic aneurysm and aortic dissection 2012-12-26 criteria provided, single submitter clinical testing The variant is found in TAAD panel(s).
Ambry Genetics RCV000617144 SCV000317698 likely benign Cardiovascular phenotype 2013-02-04 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303185 SCV000425511 uncertain significance Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing

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