ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) (rs199563573)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000762136 SCV000892395 uncertain significance not provided 2018-09-30 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000363997 SCV000447868 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000269616 SCV000447869 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000324688 SCV000447870 uncertain significance CC2D2A-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing

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