ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.2271G>A (p.Pro757=) (rs2072650)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000153101 SCV000202558 benign not specified 2014-03-19 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000153101 SCV000308348 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000325457 SCV000464558 likely benign Multiple Epiphyseal Dysplasia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000366092 SCV000464559 likely benign Stickler Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000153101 SCV000524319 benign not specified 2016-10-11 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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