ClinVar Miner

Submissions for variant NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) (rs150075912)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000175424 SCV000226901 benign not specified 2015-06-01 criteria provided, single submitter clinical testing
GeneDx RCV000175424 SCV000727523 likely benign not specified 2018-02-16 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 RCV000900526 SCV001044848 likely benign not provided 2020-11-22 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000900526 SCV001143286 benign not provided 2019-02-15 criteria provided, single submitter clinical testing

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