ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.*240A>G (rs886044972)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000377780 SCV000346315 uncertain significance Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285771 SCV000346316 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343090 SCV000346317 uncertain significance Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing

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