ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3291A>G (p.Ala1097=)

dbSNP: rs2143127816
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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 RCV001459355 SCV001663194 likely benign Fanconi anemia 2020-02-11 criteria provided, single submitter clinical testing

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