ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3070A>G (p.Met1024Val) (rs1567603987)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory,M Health: University of Minnesota RCV000761272 SCV000891231 likely pathogenic Fanconi anemia, complementation group A 2018-08-27 criteria provided, single submitter clinical testing

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