ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.2360C>T (p.Pro787Leu) (rs2855430)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039831 SCV000338558 benign not specified 2016-02-04 criteria provided, single submitter clinical testing
GeneDx RCV000039831 SCV000516477 benign not specified 2016-10-03 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.
Illumina Clinical Services Laboratory,Illumina RCV000347656 SCV000462426 benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393045 SCV000462427 benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000312865 SCV000462428 benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000369846 SCV000462429 benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393551 SCV000462430 benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039831 SCV000063522 benign not specified 2012-05-07 criteria provided, single submitter clinical testing Pro894Leu in Exon 36 of COL11A2: This variant is not expected to have clinical s ignificance because it has been identified in 13.1% (919/7012) of European Ameri can chromosomes from a broad population by the NHLBI Exome Sequencing Project (h ttp://evs.gs.washington.edu/EVS; dbSNP rs2855430).
PreventionGenetics RCV000039831 SCV000315350 benign not specified criteria provided, single submitter clinical testing

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