ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.4235T>C (p.Leu1412Ser)

gnomAD frequency: 0.06844  dbSNP: rs3795517
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001579170 SCV001806594 benign Stromme syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001647445 SCV001858960 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV001647445 SCV002332936 benign not provided 2024-01-23 criteria provided, single submitter clinical testing

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