ClinVar Miner

Submissions for variant NM_001813.3(CENPE):c.6437A>G (p.Tyr2146Cys)

gnomAD frequency: 0.00070  dbSNP: rs141813170
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001567898 SCV001791671 uncertain significance not provided 2021-12-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 22974711)
CeGaT Center for Human Genetics Tuebingen RCV001567898 SCV004148620 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing CENPE: BP4, BS2

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