ClinVar Miner

Submissions for variant NM_001813.3(CENPE):c.3749C>G (p.Thr1250Ser)

gnomAD frequency: 0.00217  dbSNP: rs114698062
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502675 SCV000594009 uncertain significance not specified 2017-02-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000969475 SCV001116997 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003962372 SCV004790027 benign CENPE-related disorder 2020-04-20 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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