ClinVar Miner

Submissions for variant NM_022725.4(FANCF):c.993C>G (p.Thr331=)

gnomAD frequency: 0.00001  dbSNP: rs751274756
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000630996 SCV000751976 likely benign Fanconi anemia 2022-05-21 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000630996 SCV002530508 likely benign Fanconi anemia 2021-12-29 criteria provided, single submitter curation

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