ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1221T>G (p.Leu407=)

gnomAD frequency: 0.00001  dbSNP: rs780963734
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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 RCV002179009 SCV002476166 likely benign Fanconi anemia 2023-12-03 criteria provided, single submitter clinical testing

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