ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.798+1635G>C (rs886061317)

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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 RCV000364198 SCV000462561 uncertain significance Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269538 SCV000462562 uncertain significance Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324699 SCV000462563 uncertain significance Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000379465 SCV000462564 uncertain significance Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000284970 SCV000462565 uncertain significance Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing

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