ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.3378C>T (p.Arg1126=) (rs151098305)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179097 SCV000231293 benign not specified 2015-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000834556 SCV000976326 benign not provided 2018-03-27 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 RCV000359620 SCV000462326 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403351 SCV000462327 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305802 SCV000462328 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000360575 SCV000462329 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000270455 SCV000462330 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000179097 SCV000268904 benign not specified 2015-05-05 criteria provided, single submitter clinical testing Arg1233Arg in Exon 51 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 3.1% (505/16152) o f South Asian chromosomes including 8 homozygotes by the Exome Aggregation Conso rtium (ExAC, http://exac.broadinstitute.org; dbSNP rs151098305).

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