ClinVar Miner

Submissions for variant NM_001024613.4(FEZF1):c.253A>G (p.Ser85Gly)

gnomAD frequency: 0.00585  dbSNP: rs145467198
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000969850 SCV001117387 benign not provided 2025-01-22 criteria provided, single submitter clinical testing
GeneDx RCV000969850 SCV001856244 benign not provided 2021-04-13 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26204995)
Genetic Services Laboratory, University of Chicago RCV001819097 SCV002069851 benign not specified 2020-07-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000969850 SCV004160987 likely benign not provided 2025-02-01 criteria provided, single submitter clinical testing FEZF1: BP4, BS2
Breakthrough Genomics, Breakthrough Genomics RCV000969850 SCV005267072 benign not provided criteria provided, single submitter not provided

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