ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1236G>A (p.Ala412=)

gnomAD frequency: 0.00002  dbSNP: rs371993688
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001410300 SCV001612345 likely benign Fanconi anemia 2023-09-27 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002493967 SCV002794778 likely benign Fanconi anemia complementation group A 2022-02-04 criteria provided, single submitter clinical testing

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