ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)

gnomAD frequency: 0.00004  dbSNP: rs200022826
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000699108 SCV000827803 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816722 SCV002070132 uncertain significance not specified 2020-02-04 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001276512 SCV002790973 uncertain significance Fanconi anemia complementation group A 2022-02-05 criteria provided, single submitter clinical testing
GeneDx RCV003148833 SCV003836952 uncertain significance not provided 2022-08-29 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001276512 SCV001462891 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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