ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.402T>C (p.Ser134=)

gnomAD frequency: 0.00110  dbSNP: rs145284589
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499501 SCV000594737 likely benign not specified 2017-02-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000546166 SCV000626343 benign Fanconi anemia 2025-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000546166 SCV002527283 likely benign Fanconi anemia 2021-05-18 criteria provided, single submitter curation
Breakthrough Genomics, Breakthrough Genomics RCV004711132 SCV005256950 likely benign not provided criteria provided, single submitter not provided

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