ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1995C>T (p.Pro665=)

gnomAD frequency: 0.00024  dbSNP: rs192743430
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000862524 SCV001003039 benign Fanconi anemia 2024-01-15 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000862524 SCV002534236 likely benign Fanconi anemia 2022-01-22 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002501213 SCV002804396 likely benign Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2021-12-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955588 SCV004768413 likely benign FANCB-related condition 2020-02-03 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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