ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.4551C>T (p.Tyr1517=) (rs372250466)

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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 RCV000402862 SCV000462221 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000310865 SCV000462222 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000365478 SCV000462223 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268653 SCV000462224 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000314487 SCV000462225 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000607000 SCV000712188 likely benign not specified 2016-06-09 criteria provided, single submitter clinical testing p.Tyr1624Tyr in exon 65 of COL11A2: This variant is not expected to have clinica l significance because it does not alter an amino acid residue, and it is not lo cated within the splice consensus sequence. It has been identified in 0.4% (6/14 34) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://ex ac.broadinstitute.org; dbSNP rs372250466).

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