ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.60G>A (p.Arg20=)

gnomAD frequency: 0.00001  dbSNP: rs1321607523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000868415 SCV001009744 likely benign Fanconi anemia 2024-08-30 criteria provided, single submitter clinical testing

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