ClinVar Miner

Submissions for variant NM_080680.3(COL11A2):c.1720-4G>T (rs369678506)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000613122 SCV000723865 likely benign not specified 2017-10-23 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.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000728410 SCV000855983 uncertain significance not provided 2017-07-26 criteria provided, single submitter clinical testing

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