ClinVar Miner

Submissions for variant NM_020785.2(CC2D2A):c.100C>T (p.Arg34Ter) (rs896947430)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000423378 SCV000511188 likely pathogenic not provided 2016-07-14 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000423378 SCV000923466 pathogenic not provided 2019-01-01 criteria provided, single submitter research

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