ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.6131C>T (p.Ser2044Leu)

gnomAD frequency: 0.03766  dbSNP: rs7533166
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001578851 SCV001806200 benign Stromme syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001647444 SCV001858854 benign not provided 2018-08-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001647444 SCV002460865 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001647444 SCV005287553 benign not provided criteria provided, single submitter not provided

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