ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.5273C>T (p.Ala1758Val) (rs202065765)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000319720 SCV000337492 uncertain significance not provided 2015-11-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000402361 SCV000346324 likely benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000306744 SCV000346325 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363283 SCV000346326 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing

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