ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.*822C>G (rs536130072)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000348721 SCV000462151 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374946 SCV000462152 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000280397 SCV000462153 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000335549 SCV000462154 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000403286 SCV000462155 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing

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