ClinVar Miner

Submissions for variant NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) (rs773905328)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169527 SCV000221004 likely pathogenic Hereditary factor XI deficiency disease 2015-01-06 criteria provided, single submitter literature only
Fulgent Genetics,Fulgent Genetics RCV000169527 SCV000893674 pathogenic Hereditary factor XI deficiency disease 2018-10-31 criteria provided, single submitter clinical testing

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