ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2481G>A (p.Arg827=)

gnomAD frequency: 0.00001  dbSNP: rs749895479
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001431336 SCV001634091 likely benign Fanconi anemia 2023-12-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501527 SCV002810759 likely benign Fanconi anemia complementation group A 2021-11-16 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003930919 SCV004746909 likely benign FANCA-related disorder 2019-10-28 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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