ClinVar Miner

Submissions for variant NM_000128.4(F11):c.1136-7_1136-4del

gnomAD frequency: 0.00001  dbSNP: rs1439195599
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671916 SCV000796950 likely pathogenic Hereditary factor XI deficiency disease 2018-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000796225 SCV000935730 pathogenic not provided 2023-08-02 criteria provided, single submitter clinical testing This sequence change falls in intron 10 of the F11 gene. It does not directly change the encoded amino acid sequence of the F11 protein. It affects a nucleotide within the consensus splice site. For these reasons, this variant has been classified as Pathogenic. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 15946525, 27067486). ClinVar contains an entry for this variant (Variation ID: 555987). This variant has been observed in individuals with Factor XI deficiency (PMID: 15946525, 27067486). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (no rsID available, gnomAD 0.006%).
Natera, Inc. RCV001829873 SCV002082943 pathogenic Plasma factor XI deficiency 2020-11-24 no assertion criteria provided clinical testing

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