ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2317-8C>T

gnomAD frequency: 0.00005  dbSNP: rs753766357
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000560100 SCV000626164 likely benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821476 SCV002066605 likely benign not specified 2019-08-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002497050 SCV002808656 likely benign Fanconi anemia complementation group A 2022-05-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478118 SCV004221960 likely benign not provided 2023-03-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935399 SCV004764414 likely benign FANCA-related condition 2019-11-18 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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