ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.4200G>A (p.Gln1400=) (rs114580597)

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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 RCV000150348 SCV000197458 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Gln1507Gln in Exon 63 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 0.4% (26/7020) of European American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs114580597).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150348 SCV000344562 likely benign not specified 2016-09-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358398 SCV000462266 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000266107 SCV000462267 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328356 SCV000462268 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366651 SCV000462269 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269760 SCV000462270 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000150348 SCV000516503 likely benign not specified 2017-12-12 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.
Center for Human Genetics, Inc RCV000659344 SCV000781155 likely benign Connective tissue disorder 2016-11-01 criteria provided, single submitter clinical testing

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