ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2391G>A (p.Ala797=)

gnomAD frequency: 0.00076  dbSNP: rs147882314
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000246102 SCV000302477 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000475463 SCV000558889 likely benign Fanconi anemia 2024-01-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000246102 SCV000594635 likely benign not specified 2016-12-05 criteria provided, single submitter clinical testing
GeneDx RCV001548653 SCV001768602 likely benign not provided 2019-03-13 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001548653 SCV002047090 benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000475463 SCV002534952 likely benign Fanconi anemia 2021-03-02 criteria provided, single submitter curation
CeGaT Center for Human Genetics Tuebingen RCV001548653 SCV004143608 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7

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