ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) (rs367841700)

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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 RCV000261394 SCV000334342 uncertain significance not provided 2018-01-11 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355466 SCV000448094 uncertain significance Joubert syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000274749 SCV000448095 uncertain significance Meckel-Gruber syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330474 SCV000448096 uncertain significance CC2D2A-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing

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