ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4140+10A>T (rs187171126)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000659324 SCV000781135 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153072 SCV000202528 benign not specified 2014-04-28 criteria provided, single submitter clinical testing
GeneDx RCV000153072 SCV000716460 likely benign not specified 2017-09-27 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 RCV000292114 SCV000346399 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000346941 SCV000346400 likely benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382881 SCV000346401 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
PreventionGenetics RCV000153072 SCV000308474 benign not specified criteria provided, single submitter clinical testing

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