ClinVar Miner

Submissions for variant NM_001813.3(CENPE):c.326C>G (p.Ala109Gly)

gnomAD frequency: 0.00125  dbSNP: rs115065523
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000972405 SCV001120115 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000972405 SCV001995028 uncertain significance not provided 2023-10-09 criteria provided, single submitter clinical testing Has not been previously reported as pathogenic or benign to our knowledge; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 22974711)

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