ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.1345-11CCT[2] (rs147815324)

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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 RCV000312194 SCV000462511 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366636 SCV000462512 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000407980 SCV000462513 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000308347 SCV000462514 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000362977 SCV000462515 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000215727 SCV000268895 benign not specified 2015-05-15 criteria provided, single submitter clinical testing c.1666-11CCT[2] in intron 17 of COL11A2: This variant is not expected to have cl inical significance because it has been identified in 0.7% (67/9276) of African chromosomes, including to homozygote individuals, by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs147815324).

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