ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) (rs1567635573)

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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 RCV000761270 SCV000891228 likely pathogenic Fanconi anemia, complementation group A 2017-07-14 criteria provided, single submitter clinical testing

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