ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.-231dup

dbSNP: rs886044983
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000298954 SCV000346640 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000356083 SCV000346641 uncertain significance Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000263869 SCV000346642 uncertain significance Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing

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