ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3099C>T (p.Asp1033=)

dbSNP: rs139289675
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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 RCV002104354 SCV002438471 likely benign Fanconi anemia 2024-12-09 criteria provided, single submitter clinical testing

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