ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.330A>C (p.Leu110=)

gnomAD frequency: 0.00008  dbSNP: rs201633684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553960 SCV000626278 benign Fanconi anemia 2024-01-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490945 SCV002801813 likely benign Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2022-03-04 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316677 SCV004017601 benign Fanconi anemia complementation group B 2023-07-07 criteria provided, single submitter clinical testing

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