ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3239+7C>T

gnomAD frequency: 0.00004  dbSNP: rs775293779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001466613 SCV001670617 likely benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495682 SCV002802487 likely benign Fanconi anemia complementation group A 2022-03-23 criteria provided, single submitter clinical testing

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