ClinVar Miner

Submissions for variant NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) (rs56230601)

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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 RCV000079907 SCV000111790 uncertain significance not provided 2013-09-19 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363932 SCV000346601 likely benign Marshall syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269415 SCV000346602 likely benign Stickler Syndrome, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000329141 SCV000346603 likely benign Fibrochondrogenesis 2016-06-14 criteria provided, single submitter clinical testing

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