ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.1569T>A (p.Gly523=) (rs150970524)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000243433 SCV000308333 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333958 SCV000464578 likely benign Multiple Epiphyseal Dysplasia, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000370008 SCV000464579 likely benign Stickler Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000243433 SCV000719767 likely benign not specified 2017-05-26 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.
Invitae RCV000887792 SCV001031375 benign not provided 2018-12-17 criteria provided, single submitter clinical testing

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