ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.9081C>T (p.Leu3027=)

gnomAD frequency: 0.01439  dbSNP: rs74557452
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000967930 SCV001115354 benign not provided 2024-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000967930 SCV001785236 likely benign not provided 2021-02-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002505465 SCV002813080 likely benign Stromme syndrome 2022-04-21 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000967930 SCV005261723 likely benign not provided criteria provided, single submitter not provided

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