ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.828A>G (p.Ala276=) (rs764926559)

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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 RCV000286765 SCV000346568 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000341789 SCV000346569 uncertain significance Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000405331 SCV000346570 uncertain significance Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing

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