ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.869T>C (p.Met290Thr)

gnomAD frequency: 0.00014  dbSNP: rs754552650
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000331728 SCV000481939 likely benign VACTERL with hydrocephalus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000386373 SCV000481940 likely benign Fanconi Anemia, X-Linked 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000475401 SCV000558849 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000475401 SCV002536440 likely benign Fanconi anemia 2022-03-10 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003970085 SCV004777482 likely benign FANCB-related condition 2020-09-02 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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