ClinVar Miner

Submissions for variant NM_001851.5(COL9A1):c.2562T>C (p.Pro854=) (rs1135057)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724315 SCV000229864 uncertain significance not provided 2014-10-30 criteria provided, single submitter clinical testing
GeneDx RCV000177905 SCV000714952 benign not specified 2017-09-21 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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