ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.3846A>T (p.Pro1282=) (rs372292129)

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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 RCV000298658 SCV000334695 uncertain significance not provided 2018-08-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000278967 SCV000448061 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000338724 SCV000448062 uncertain significance CC2D2A-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374700 SCV000448063 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing

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