ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3168C>T (p.Leu1056=)

gnomAD frequency: 0.00011  dbSNP: rs377633991
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 RCV001410305 SCV001612350 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001410305 SCV002534989 likely benign Fanconi anemia 2020-10-26 criteria provided, single submitter curation

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