ClinVar Miner

Submissions for variant NM_001813.3(CENPE):c.7542G>A (p.Val2514=)

gnomAD frequency: 0.00090  dbSNP: rs142939020
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000980988 SCV001128951 benign not provided 2019-01-03 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000980988 SCV003916906 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing CENPE: BP4, BP7

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