ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.752A>T (p.Gln251Leu) (rs201399429)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000357558 SCV000462581 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262918 SCV000462582 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318091 SCV000462583 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000372958 SCV000462584 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278458 SCV000462585 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215858 SCV000271593 uncertain significance not specified 2015-11-05 criteria provided, single submitter clinical testing The p.Gln251Leu variant in COL11A2 has not been previously reported in individua ls with hearing loss, but has been identified in 5/8654 of East Asian chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; rs2 01399429). Computational prediction tools and conservation analysis do not provi de strong support for or against an impact to the protein. In summary, the clini cal significance of the p.Gln251Leu variant is uncertain.

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