ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.3853-39G>A (rs2855448)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000834107 SCV000975875 benign not provided 2018-06-13 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.
Nilou-Genome Lab RCV001585777 SCV001821659 benign Deafness, autosomal dominant 13 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001585778 SCV001821660 benign Deafness, autosomal recessive 53 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001585779 SCV001821661 benign Fibrochondrogenesis 2 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001585775 SCV001821662 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001585776 SCV001821663 benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2021-07-22 criteria provided, single submitter clinical testing

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