ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.90C>G (p.Val30=)

gnomAD frequency: 0.00001  dbSNP: rs532713581
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000868017 SCV001009300 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816981 SCV002069554 likely benign not specified 2020-04-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000868017 SCV002090799 likely benign Fanconi anemia 2020-01-17 no assertion criteria provided clinical testing

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