ClinVar Miner

Submissions for variant NM_080679.2(COL11A2):c.2771C>T (p.Pro924Leu) (rs528009333)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596294 SCV000707286 uncertain significance not provided 2017-04-13 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274780 SCV000462396 likely benign Otospondylomegaepiphyseal dysplasia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329953 SCV000462397 likely benign Nonsyndromic Hearing Loss, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000389201 SCV000462398 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000294955 SCV000462399 likely benign Weissenbacher-Zweymuller syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000317488 SCV000462400 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing

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