ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1666-11CCT[2]

dbSNP: rs147815324
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham 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).
Illumina Laboratory Services, Illumina RCV000312194 SCV000462511 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000366636 SCV000462512 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000407980 SCV000462513 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000308347 SCV000462514 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000362977 SCV000462515 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001513224 SCV001720806 benign not provided 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001513224 SCV001894651 likely benign not provided 2020-10-22 criteria provided, single submitter clinical testing

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