ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) (rs147637674)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Human Genetics, Inc RCV000680458 SCV000807833 likely benign Connective tissue disorder 2018-06-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723756 SCV000202529 uncertain significance not provided 2014-05-02 criteria provided, single submitter clinical testing
GeneDx RCV000153073 SCV000718595 likely benign not specified 2017-04-20 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 RCV000313074 SCV000346405 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000349030 SCV000346406 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000399038 SCV000346407 likely benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing

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