ClinVar Miner

Submissions for variant NM_014008.5(CCDC22):c.1150C>T (p.Arg384Cys)

dbSNP: rs143790434
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193188 SCV000246906 uncertain significance not specified 2014-09-24 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000193188 SCV000332639 benign not specified 2015-07-15 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000445174 SCV000511399 likely benign not provided 2016-11-11 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp RCV000445174 SCV001105681 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917739 SCV004735969 benign CCDC22-related disorder 2019-07-23 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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