ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.353G>C (p.Arg118Pro) (rs41268014)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000757095 SCV000885207 likely benign not provided 2017-07-06 criteria provided, single submitter clinical testing The p.Arg118Pro variant (rs41268014) has not been reported in the medical literature in association with sensorineural hearing loss, and is classified in the ClinVar database as likely benign by multiple laboratories (Variation ID: 162997). This variant is listed in the Genome Aggregation Database (gnomAD) browser with an overall frequency of 0.21% (identified in 586 out of 277,152 chromosomes, including 1 homozygote). Therefore, based on the available evidence, the p.Arg118Pro variant is likely to be benign.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000150359 SCV000332684 likely benign not specified 2017-05-11 criteria provided, single submitter clinical testing
GeneDx RCV000150359 SCV000572635 likely benign not specified 2018-02-13 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 RCV000391341 SCV000462596 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000303124 SCV000462597 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355505 SCV000462598 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000263125 SCV000462599 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000297041 SCV000462600 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000150359 SCV000197477 likely benign not specified 2015-04-20 criteria provided, single submitter clinical testing p.Arg118Pro in exon 3 of COL11A2: This variant is not expected to have clinical significance because it has been identified in 0.3% (225/66582) of European chro mosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs41268014).
PreventionGenetics RCV000150359 SCV000315358 likely benign not specified criteria provided, single submitter clinical testing

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