ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3450G>A (p.Leu1150=)

gnomAD frequency: 0.00001  dbSNP: rs1266179547
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 RCV000630999 SCV000751979 likely benign Fanconi anemia 2023-12-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003420091 SCV004143595 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FANCA: BP4, BP7

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