ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.2307+3G>A (rs970901)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039830 SCV000342316 benign not specified 2016-05-31 criteria provided, single submitter clinical testing
GeneDx RCV000039830 SCV000516220 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.
Illumina Clinical Services Laboratory,Illumina RCV000297691 SCV000462431 benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000354354 SCV000462432 benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261779 SCV000462433 benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000319256 SCV000462434 benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000357659 SCV000462435 benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039830 SCV000063521 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 2628+3G>A in Intron 35 of COL11A2: This variant is not expected to have clinical significance because it has been identified in 44.8% (1993/4452) of European Am erican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs970901).
PreventionGenetics RCV000039830 SCV000315349 benign not specified criteria provided, single submitter clinical testing

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