ClinVar Miner

Submissions for variant NM_000128.4(F11):c.415A>T (p.Arg139Ter)

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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. RCV002309575 SCV002603452 likely pathogenic Hereditary factor XI deficiency disease 2021-11-08 criteria provided, single submitter clinical testing NM_000128.3(F11):c.415A>T(R139*) is expected to be pathogenic in the context of factor XI deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in F11, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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