ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.543G>A (p.Ala181=)

gnomAD frequency: 0.00035  dbSNP: rs143314367
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000524853 SCV000626210 likely benign Fanconi anemia 2024-01-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506291 SCV002801926 likely benign Fanconi anemia complementation group A 2021-07-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935401 SCV004752417 likely benign FANCA-related disorder 2022-11-21 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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