ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg)

gnomAD frequency: 0.00058  dbSNP: rs142101123
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000631018 SCV000751998 benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821784 SCV002068414 likely benign not specified 2018-02-14 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000631018 SCV002536432 likely benign Fanconi anemia 2022-02-05 criteria provided, single submitter curation

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