ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg) (rs199875795)

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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 RCV000290623 SCV000346508 uncertain significance Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000347901 SCV000346509 uncertain significance Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393400 SCV000346510 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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