ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1225+12C>T

gnomAD frequency: 0.00030  dbSNP: rs200672872
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001494672 SCV001699333 likely benign Fanconi anemia 2024-01-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002501698 SCV002807298 likely benign Fanconi anemia complementation group A 2021-10-01 criteria provided, single submitter clinical testing

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