ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=)

dbSNP: rs151224882
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000476753 SCV000558537 likely benign Fanconi anemia 2024-12-11 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000503998 SCV000594688 likely benign not specified 2016-04-13 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000476753 SCV002529476 likely benign Fanconi anemia 2021-05-04 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002489113 SCV002798365 likely benign Fanconi anemia complementation group D2 2021-08-12 criteria provided, single submitter clinical testing

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