ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3381A>G (p.Thr1127=)

gnomAD frequency: 0.00001  dbSNP: rs946344673
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001437112 SCV001639959 likely benign Fanconi anemia 2023-12-09 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501237 SCV002807053 likely benign Fanconi anemia complementation group A 2022-05-20 criteria provided, single submitter clinical testing

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