ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.6214T>C (p.Ser2072Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003144796 SCV003831555 uncertain significance Stromme syndrome 2021-07-20 criteria provided, single submitter clinical testing
3billion RCV003144796 SCV005329022 likely benign Stromme syndrome 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.

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