ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1471-8A>G

gnomAD frequency: 0.00001  dbSNP: rs374717514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526101 SCV000626147 likely benign Fanconi anemia 2023-12-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002506290 SCV002812553 likely benign Fanconi anemia complementation group A 2022-02-21 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900106 SCV004710816 likely benign FANCA-related disorder 2022-02-03 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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