ClinVar Miner

Submissions for variant NM_000128.3(F11):c.218+4A>G (rs767240420)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579337 SCV000680953 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing The c.218+4A>G variant in the F11 gene has been reported previously in association with factor XI deficiency, in affected individuals who homozygous or heterozygous for the c.218+4A>G variant (Kawankar et al., 2016). This variant reduces the quality of the splice donor site in intron 3, and is expected to cause abnormal gene splicing. However, in the absence of RNA/functional studies, the actual effect of c.218+4A>G in this individual is unknown. The c.218+4A>G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret c.218+4A>G as a variant of uncertain significance.
Counsyl RCV000668645 SCV000793279 uncertain significance Hereditary factor XI deficiency disease 2017-08-08 criteria provided, single submitter clinical testing

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