ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)

gnomAD frequency: 0.00001  dbSNP: rs201492940
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796532 SCV000936050 likely benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816853 SCV002071323 uncertain significance not specified 2019-10-24 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001276495 SCV002778642 uncertain significance Fanconi anemia complementation group A 2022-02-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276495 SCV001462874 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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