ClinVar Miner

Submissions for variant NM_004239.4(TRIP11):c.658-18_658-17insGGATTACAGGCGTGAGCCACCGCGCCCGGCC

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003019935 SCV003327344 uncertain significance Achondrogenesis, type IA 2022-03-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with TRIP11-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change falls in intron 5 of the TRIP11 gene. It does not directly change the encoded amino acid sequence of the TRIP11 protein.

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