ClinVar Miner

Submissions for variant NM_000090.3(COL3A1):c.2022+6A>T (rs368117488)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000827200 SCV000968829 likely benign not provided 2018-05-17 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.
Invitae RCV000465933 SCV000541802 uncertain significance Ehlers-Danlos syndrome, type 4 2016-11-08 criteria provided, single submitter clinical testing

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