ClinVar Miner

Submissions for variant NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr)

gnomAD frequency: 0.01115  dbSNP: rs61732031
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001545894 SCV001765312 likely benign not provided 2023-08-31 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Genome-Nilou Lab RCV001579168 SCV001806592 benign Stromme syndrome 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001545894 SCV002409443 benign not provided 2025-01-29 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001545894 SCV005261710 likely benign not provided criteria provided, single submitter not provided

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