ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4251C>T (p.His1417=)

gnomAD frequency: 0.00001  dbSNP: rs752333498
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001407293 SCV001609261 likely benign Fanconi anemia 2024-01-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002499872 SCV002812990 likely benign Fanconi anemia complementation group A 2022-03-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478818 SCV004218607 likely benign not provided 2023-06-21 criteria provided, single submitter clinical testing

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