ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3483G>A (p.Thr1161=)

gnomAD frequency: 0.00001  dbSNP: rs768306527
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 RCV001406419 SCV001608372 likely benign Fanconi anemia 2023-11-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV001406419 SCV002092527 likely benign Fanconi anemia 2021-10-05 no assertion criteria provided clinical testing

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