ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.3611A>G (p.Asn1204Ser) (rs727504460)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Division of Human Genetics,Children's Hospital of Philadelphia RCV000477787 SCV000536797 uncertain significance Deafness, autosomal dominant 13 2016-02-02 no assertion criteria provided research
Illumina Clinical Services Laboratory,Illumina RCV000368741 SCV000462306 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000262144 SCV000462307 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301208 SCV000462308 uncertain significance Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353712 SCV000462309 uncertain significance Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261111 SCV000462310 uncertain significance Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000155584 SCV000205292 uncertain significance not specified 2013-04-08 criteria provided, single submitter clinical testing The Asn1311Ser variant in COL11A2 has not been reported in affected individuals or in large population studies. Computational analyses (biochemical amino acid p roperties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong s upport for or against an impact to the protein. In summary, additional data is n eeded to determine the clinical significance of this variant.

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