ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) (rs376746356)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727108 SCV000705733 uncertain significance not provided 2017-01-16 criteria provided, single submitter clinical testing
GeneDx RCV000431421 SCV000535225 likely benign not specified 2016-12-23 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.
Illumina Clinical Services Laboratory,Illumina RCV000310945 SCV000447735 uncertain significance CC2D2A-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000352257 SCV000447736 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000394900 SCV000447737 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing

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