ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) (rs371086728)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723801 SCV000202367 uncertain significance not provided 2018-07-16 criteria provided, single submitter clinical testing
GeneDx RCV000152937 SCV000729100 likely benign not specified 2018-01-25 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 RCV000316406 SCV000447724 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000375703 SCV000447725 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000281217 SCV000447726 uncertain significance CC2D2A-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000536470 SCV000634587 benign Joubert syndrome; Meckel-Gruber syndrome 2017-06-26 criteria provided, single submitter clinical testing

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