ClinVar Miner

Submissions for variant NM_000089.3(COL1A2):c.1665+15A>G (rs421587)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000249349 SCV000302008 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359953 SCV000470593 benign Osteogenesis Imperfecta, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265350 SCV000470594 benign Ehlers-Danlos syndrome, procollagen proteinase deficient 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000249349 SCV000516330 benign not specified 2016-03-03 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.

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