ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.3811A>G (p.Lys1271Glu)

gnomAD frequency: 0.00238  dbSNP: rs62000407
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500524 SCV000594019 uncertain significance not specified 2017-01-31 criteria provided, single submitter clinical testing
Invitae RCV000656315 SCV001099347 likely benign not provided 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000656315 SCV001800958 likely benign not provided 2021-02-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000656315 SCV004125575 likely benign not provided 2023-12-01 criteria provided, single submitter clinical testing CENPF: BP4
PreventionGenetics, part of Exact Sciences RCV003925453 SCV004745889 likely benign CENPF-related condition 2022-03-23 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes RCV000656315 SCV000778288 uncertain significance not provided 2017-11-02 no assertion criteria provided clinical testing

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