ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.4362A>G (p.Thr1454=) (rs34055850)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000150347 SCV000732340 likely benign not specified 2017-12-13 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.
Illumina Clinical Services Laboratory,Illumina RCV000404657 SCV000462241 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314690 SCV000462242 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000367094 SCV000462243 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274971 SCV000462244 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000299642 SCV000462245 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150347 SCV000197457 likely benign not specified 2016-11-08 criteria provided, single submitter clinical testing p.Thr1561Thr in exon 63 of COL11A2: This variant is not expected to have clinica l significance because it does not alter an amino acid residue, is not located w ithin the splice consensus sequence, and has been identified in 0.2% (101/66526) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs34055850).
PreventionGenetics RCV000150347 SCV000315363 likely benign not specified criteria provided, single submitter clinical testing

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