ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu)

gnomAD frequency: 0.00036  dbSNP: rs147255018
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000237072 SCV000294250 benign Fanconi anemia 2024-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820789 SCV002071703 likely benign not specified 2021-08-19 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000237072 SCV002534238 likely benign Fanconi anemia 2021-02-07 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV003884430 SCV004698464 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FANCB: BP4, BS2
PreventionGenetics, part of Exact Sciences RCV003947807 SCV004758048 likely benign FANCB-related condition 2021-11-20 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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