ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2981+4dup

gnomAD frequency: 0.00007  dbSNP: rs75004096
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000231103 SCV000283557 likely benign Fanconi anemia 2024-01-27 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002478831 SCV002774565 likely benign not provided 2023-05-30 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV002478831 SCV004224285 uncertain significance not provided 2022-10-19 criteria provided, single submitter clinical testing BS1
PreventionGenetics, part of Exact Sciences RCV003955297 SCV004782125 likely benign FANCA-related disorder 2022-03-01 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).
Natera, Inc. RCV001276513 SCV001462892 likely benign Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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