ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1275_1281dup (p.Thr428fs)

dbSNP: rs1580098946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000816197 SCV000956694 pathogenic not provided 2021-08-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in F11 are known to be pathogenic (PMID: 15728123, 23929304, 25074526). This variant has not been reported in the literature in individuals with F11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr428Aspfs*15) in the F11 gene. It is expected to result in an absent or disrupted protein product.
Revvity Omics, Revvity RCV003141837 SCV003823977 pathogenic Hereditary factor XI deficiency disease 2022-06-30 criteria provided, single submitter clinical testing

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