ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.537T>G (p.Leu179=)

gnomAD frequency: 0.00006  dbSNP: rs749811331
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631028 SCV000752008 likely benign Fanconi anemia 2024-01-22 criteria provided, single submitter clinical testing

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