ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.3294C>A (p.Asn1098Lys) (rs141967872)

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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, Partners HealthCare Personalized Medicine RCV000223146 SCV000268903 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Asn1205Lys in Exon 49 of COL11A2: This variant is not expected to have clinical significance because it has been identified in 1.9% (57/3036) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs141967872).
PreventionGenetics,PreventionGenetics RCV000223146 SCV000315359 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392185 SCV000462341 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283936 SCV000462342 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338951 SCV000462343 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000392187 SCV000462344 likely benign Otospondylomegaepiphyseal dysplasia, autosomal recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000304454 SCV000462345 likely benign Otospondylomegaepiphyseal dysplasia, autosomal dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000223146 SCV000732484 benign not specified 2017-10-17 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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