ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.1039-7A>C (rs3129201)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039825 SCV000063516 benign not specified 2012-11-20 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039825 SCV000315340 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306448 SCV000462531 benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342438 SCV000462532 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000390997 SCV000462533 benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000302795 SCV000462534 benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357632 SCV000462535 benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000039825 SCV000516218 benign not specified 2016-09-29 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039825 SCV000862110 benign not specified 2018-06-26 criteria provided, single submitter clinical testing

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