ClinVar Miner

Submissions for variant NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)

gnomAD frequency: 0.00400  dbSNP: rs79080874
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082996 SCV000285881 benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000515122 SCV000610536 likely benign not provided 2017-03-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002500767 SCV002808867 likely benign Fanconi anemia complementation group I 2022-03-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV002500767 SCV004015676 benign Fanconi anemia complementation group I 2023-07-07 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000515122 SCV005213912 likely benign not provided criteria provided, single submitter not provided

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