ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.798+1569T>A (rs1799907)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039840 SCV000063531 benign not specified 2012-05-07 criteria provided, single submitter clinical testing 877-4T>A in Intron 06 of COL11A2: This variant is not expected to have clinical significance because it is not located within the conserved splice consensus seq uence and has been identified in 32.8% (1000/3050) of African American chromosom es from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs. washington.edu/EVS; dbSNP rs1799907).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039840 SCV000232327 benign not specified 2016-01-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000039840 SCV000315367 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321401 SCV000462566 benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375972 SCV000462567 benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280998 SCV000462568 benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336079 SCV000462569 benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000400780 SCV000462570 benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000039840 SCV000516325 benign not specified 2016-09-29 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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