ClinVar Miner

Submissions for variant NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met)

gnomAD frequency: 0.00002  dbSNP: rs138192474
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
Invitae RCV000548316 SCV000626266 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000548316 SCV002534209 uncertain significance Fanconi anemia 2022-02-05 criteria provided, single submitter curation

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