ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr) (rs144562769)

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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 RCV000291280 SCV000346462 uncertain significance Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343870 SCV000346463 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382264 SCV000346464 uncertain significance Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing

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