ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1776+13C>T

gnomAD frequency: 0.00009  dbSNP: rs371272310
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002197755 SCV002354232 likely benign Fanconi anemia 2023-12-19 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002494103 SCV002804128 likely benign Fanconi anemia complementation group A 2022-03-08 criteria provided, single submitter clinical testing

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