ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.*687C>T (rs186072680)

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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 RCV000347984 SCV000346297 likely benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000377183 SCV000346298 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285076 SCV000346299 likely benign Fibrochondrogenesis 1 2016-06-14 criteria provided, single submitter clinical testing

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