ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.2484+22C>G (rs2744512)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000254265 SCV000315347 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000834097 SCV000975865 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 RCV001582880 SCV001821703 benign Deafness, autosomal dominant 13 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001582881 SCV001821704 benign Deafness, autosomal recessive 53 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001582882 SCV001821705 benign Fibrochondrogenesis 2 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001582878 SCV001821706 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2021-07-22 criteria provided, single submitter clinical testing
Nilou-Genome Lab RCV001582879 SCV001821707 benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2021-07-22 criteria provided, single submitter clinical testing

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