ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.80-13A>C (rs566189676)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000777773 SCV000913744 benign Thoracic aortic aneurysm and aortic dissection 2018-09-29 criteria provided, single submitter clinical testing
GeneDx RCV000613048 SCV000721821 likely benign not specified 2017-08-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000298229 SCV000425494 likely benign Ehlers-Danlos syndrome, type 4 2016-06-14 criteria provided, single submitter clinical testing

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