ClinVar Miner

Submissions for variant NM_001080522.2(CC2D2A):c.2323G>A (p.Glu775Lys) (rs751808973)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000784926 SCV000923468 uncertain significance COACH syndrome 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000784927 SCV000923469 uncertain significance Joubert syndrome 9 2019-01-01 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000784928 SCV000923470 uncertain significance Meckel syndrome type 6 2019-01-01 criteria provided, single submitter clinical testing

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