ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) (rs139064549)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000224103 SCV000281289 benign not provided 2015-12-21 criteria provided, single submitter clinical testing
GeneDx RCV000424224 SCV000516432 benign not specified 2017-04-24 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 RCV000327059 SCV000346354 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000381624 SCV000346355 likely benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000296548 SCV000346356 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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