ClinVar Miner

Submissions for variant NM_014915.3(ANKRD26):c.-116C>G

dbSNP: rs1589393739
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851960 SCV000899383 likely pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002280889 SCV002569250 likely pathogenic Thrombocytopenia 2 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558572 SCV004295644 uncertain significance not provided 2023-02-02 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 627189). This variant has been observed in individual(s) with ANKRD26-related conditions (PMID: 24030261, 31064749). It has also been observed to segregate with disease in related individuals. This variant occurs in a non-coding region of the ANKRD26 gene. It does not change the encoded amino acid sequence of the ANKRD26 protein.

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