ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.4750-5T>G (rs368309085)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217784 SCV000268907 benign not specified 2015-09-08 criteria provided, single submitter clinical testing c.5071-5T>G in intron 65 of COL11A2: This variant is not expected to have clinic al significance because it has been identified in 0.6% (105/16262) of South Asia n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs368309085).
Illumina Clinical Services Laboratory,Illumina RCV000406560 SCV000462201 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000305165 SCV000462202 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000359941 SCV000462203 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265543 SCV000462204 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000320631 SCV000462205 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000217784 SCV000728878 likely benign not specified 2017-06-13 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.

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