ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) (rs372671421)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195028 SCV000246902 uncertain significance not specified 2015-06-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000195028 SCV000306446 likely benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000265440 SCV000448072 uncertain significance CC2D2A-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301860 SCV000448073 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000361304 SCV000448074 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727171 SCV000706339 uncertain significance not provided 2018-07-24 criteria provided, single submitter clinical testing
GeneDx RCV000727171 SCV000983459 likely benign not provided 2018-04-09 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 RCV000727171 SCV001001048 likely benign not provided 2018-04-20 criteria provided, single submitter clinical testing

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