ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)

gnomAD frequency: 0.00001  dbSNP: rs772846275
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000305871 SCV000394193 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000305871 SCV004449188 likely benign Fanconi anemia 2024-03-01 criteria provided, single submitter clinical testing

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