ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1537T>C (p.Leu513=)

gnomAD frequency: 0.00062  dbSNP: rs144118098
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540829 SCV000626148 likely benign Fanconi anemia 2024-01-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821473 SCV002072321 likely benign not specified 2020-09-10 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000540829 SCV002534916 likely benign Fanconi anemia 2021-04-23 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001821473 SCV002774390 benign not specified 2021-06-11 criteria provided, single submitter clinical testing

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