ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2222+7G>A

gnomAD frequency: 0.00007  dbSNP: rs374312736
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502652 SCV000594636 uncertain significance not specified 2017-06-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000864671 SCV001005503 likely benign Fanconi anemia 2024-12-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276548 SCV001462946 uncertain significance Fanconi anemia complementation group A 2019-10-28 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003942632 SCV004763433 likely benign FANCA-related disorder 2020-06-29 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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