ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1776+11G>A

gnomAD frequency: 0.00012  dbSNP: rs377308050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002215097 SCV002367367 likely benign Fanconi anemia 2024-01-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002498249 SCV002813636 likely benign Fanconi anemia complementation group A 2022-01-01 criteria provided, single submitter clinical testing

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