ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.1504-14T>A (rs537940)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000248474 SCV000308331 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000261449 SCV000464580 likely benign Stickler Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000316638 SCV000464581 likely benign Multiple Epiphyseal Dysplasia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000248474 SCV000527977 benign not specified 2016-10-30 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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