ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)

gnomAD frequency: 0.00007  dbSNP: rs369765552
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001509687 SCV001716525 benign Fanconi anemia 2023-12-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821806 SCV002070564 likely benign not specified 2018-04-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501745 SCV002811796 likely benign Fanconi anemia complementation group A 2022-05-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003416376 SCV004143597 likely benign not provided 2023-04-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003416376 SCV004218559 likely benign not provided 2022-10-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003966049 SCV004783835 likely benign FANCA-related disorder 2023-07-21 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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