ClinVar Miner

Submissions for variant NM_001813.3(CENPE):c.4204A>G (p.Ile1402Val)

gnomAD frequency: 0.01398  dbSNP: rs35505100
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Total submissions: 4
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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 RCV000514886 SCV000610676 likely benign not provided 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000514886 SCV001033214 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000514886 SCV001903319 benign not provided 2019-08-21 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22974711)
Breakthrough Genomics, Breakthrough Genomics RCV000514886 SCV005260290 likely benign not provided criteria provided, single submitter not provided

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