ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys)

gnomAD frequency: 0.00003  dbSNP: rs780116069
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000606668 SCV000732193 likely benign not specified 2017-02-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001523706 SCV001733466 benign Fanconi anemia 2025-01-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000606668 SCV002067569 benign not specified 2018-11-07 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001523706 SCV002536428 likely benign Fanconi anemia 2022-01-14 criteria provided, single submitter curation

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