ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.1482C>G (p.His494Gln)

gnomAD frequency: 0.26083  dbSNP: rs2070065
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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 RCV001579160 SCV001806584 benign Stromme syndrome 2021-07-22 criteria provided, single submitter clinical testing
GeneDx RCV001658301 SCV001874606 benign not provided 2018-07-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001658301 SCV002447814 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001658301 SCV005287524 benign not provided criteria provided, single submitter not provided

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