ClinVar Miner

Submissions for variant NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs)

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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. RCV002310472 SCV002602458 likely pathogenic Hereditary factor XI deficiency disease 2022-01-02 criteria provided, single submitter clinical testing NM_000128.3(F11):c.879_880delTTinsAATA(S294Ifs*56) 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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