ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3408+9C>G

gnomAD frequency: 0.00043  dbSNP: rs377702890
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000865684 SCV001006688 likely benign Fanconi anemia 2024-01-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816973 SCV002072320 likely benign not specified 2020-09-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478532 SCV004218557 likely benign not provided 2023-06-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274560 SCV001458816 uncertain significance Fanconi anemia complementation group A 2020-01-17 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003955632 SCV004776033 likely benign FANCA-related disorder 2022-02-10 no assertion criteria provided 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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