ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) (rs187003641)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000114170 SCV000147722 uncertain significance Meckel-Gruber syndrome 2013-08-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000176277 SCV000227907 likely benign not specified 2017-01-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000515156 SCV000611381 uncertain significance COACH syndrome; Meckel syndrome type 6; Joubert syndrome 9 2017-05-23 criteria provided, single submitter clinical testing
GeneDx RCV000176277 SCV000727457 likely benign not specified 2018-02-21 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.
Invitae RCV000636974 SCV000758422 likely benign not provided 2019-02-27 criteria provided, single submitter clinical testing

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