ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu)

gnomAD frequency: 0.00009  dbSNP: rs370248837
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864986 SCV001005880 likely benign Fanconi anemia 2024-01-21 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001816965 SCV002070800 uncertain significance not specified 2019-06-12 criteria provided, single submitter clinical testing

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