ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)

gnomAD frequency: 0.00002  dbSNP: rs761346761
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000528416 SCV000626273 likely benign Fanconi anemia 2023-10-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000766077 SCV000897549 uncertain significance Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 2018-10-31 criteria provided, single submitter clinical testing

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