ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1248C>G (p.Ala416=)

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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 RCV005120393 SCV005739271 likely benign Fanconi anemia 2024-02-05 criteria provided, single submitter clinical testing

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