ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter)

dbSNP: rs2039261844
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001263793 SCV001441886 likely pathogenic Fanconi anemia complementation group A 2020-03-05 criteria provided, single submitter clinical testing

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