ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3912A>G (p.Ala1304=)

gnomAD frequency: 0.00019  dbSNP: rs545021222
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000861438 SCV001001748 likely benign Fanconi anemia 2024-01-04 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816927 SCV002068722 likely benign not specified 2019-03-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478527 SCV004218589 likely benign not provided 2023-05-10 criteria provided, single submitter clinical testing

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