ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.9280C>T (p.Arg3094Ter)

gnomAD frequency: 0.00001  dbSNP: rs869312748
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
MGZ Medical Genetics Center RCV000210061 SCV002579054 likely pathogenic Stromme syndrome 2022-04-04 criteria provided, single submitter clinical testing
OMIM RCV000210061 SCV000265987 pathogenic Stromme syndrome 2025-02-19 no assertion criteria provided literature only

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