ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.1026del (p.Glu342fs)

dbSNP: rs1064795215
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479207 SCV000570820 likely pathogenic not provided 2020-02-04 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre RCV003989536 SCV004808215 likely pathogenic Stromme syndrome 2024-03-29 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV003989536 SCV005871050 pathogenic Stromme syndrome 2024-01-01 criteria provided, single submitter clinical testing PVS1, PM2, PM3

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