ClinVar Miner

Submissions for variant NM_001163771.2(COL11A2):c.688G>T (p.Gly230Trp) (rs141430703)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000217677 SCV000343748 benign not specified 2016-08-03 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333391 SCV000462586 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000387942 SCV000462587 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000293819 SCV000462588 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000348697 SCV000462589 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393362 SCV000462590 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000217677 SCV000268893 benign not specified 2015-04-17 criteria provided, single submitter clinical testing p.Gly230Trp in exon 5A of COL11A2: This variant is not expected to have clinical significance because it has been identified in 0.9% (78/8654) of East Asian chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs141430703).
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490461 SCV000267262 uncertain significance Deafness, autosomal recessive 53; Deafness, autosomal dominant 13 2016-03-18 criteria provided, single submitter reference population

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