ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3627-9C>T

gnomAD frequency: 0.00003  dbSNP: rs547300201
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001443036 SCV001645996 likely benign Fanconi anemia 2024-01-08 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002504727 SCV002802539 likely benign Fanconi anemia complementation group A 2022-03-11 criteria provided, single submitter clinical testing

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