ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.8692C>T (p.Arg2898Ter)

dbSNP: rs786205697
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV000170525 SCV002786814 pathogenic Stromme syndrome 2022-05-20 criteria provided, single submitter clinical testing
OMIM RCV000170525 SCV000223090 pathogenic Stromme syndrome 2015-03-01 no assertion criteria provided literature only

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