ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.2790G>T (p.Pro930=) (rs146093235)

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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 RCV000178510 SCV000230601 benign not specified 2015-03-16 criteria provided, single submitter clinical testing
GeneDx RCV000834554 SCV000976324 benign not provided 2018-03-27 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 RCV000303942 SCV000462391 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363775 SCV000462392 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269088 SCV000462393 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000328983 SCV000462394 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383522 SCV000462395 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000178510 SCV000268901 benign not specified 2015-05-05 criteria provided, single submitter clinical testing Pro1037Pro in Exon 42 of COL11A2: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 3.1% (508/16154) o f South Asian chromosomes including 8 homozygotes by the Exome Aggregation Cons ortium (ExAC, http://exac.broadinstitute.org; dbSNP rs146093235).

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