ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.3295C>T (p.Leu1099=) (rs147576338)

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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 RCV000155069 SCV000204753 likely benign not specified 2015-05-28 criteria provided, single submitter clinical testing p.Leu1206Leu in exon 49 of COL11A2: This variant is not expected to have clinica l significance because it does not alter an amino acid residue and is not locate d within the splice consensus sequence. It has been identified in 0.2% (38/16314 ) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://e xac.broadinstitute.org; dbSNP rs147576338).
Illumina Clinical Services Laboratory,Illumina RCV000296002 SCV000462336 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000332238 SCV000462337 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372982 SCV000462338 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278452 SCV000462339 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338212 SCV000462340 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000155069 SCV000714598 likely benign not specified 2017-03-21 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 RCV000731331 SCV000859136 uncertain significance not provided 2018-01-24 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000731331 SCV001154714 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing

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