ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.754G>A (p.Asp252Asn)

gnomAD frequency: 0.00158  dbSNP: rs111944585
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502256 SCV000594644 likely benign not specified 2017-03-07 criteria provided, single submitter clinical testing
Invitae RCV000917348 SCV001062623 likely benign Fanconi anemia 2022-11-04 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000917348 SCV002535072 likely benign Fanconi anemia 2020-11-30 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV002476005 SCV002774149 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing

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