ClinVar Miner

Submissions for variant NM_014915.3(ANKRD26):c.-127A>G

dbSNP: rs1589393799
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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 RCV000851620 SCV000899388 pathogenic Thrombocytopenia 2019-02-01 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV003558569 SCV004295649 uncertain significance not provided 2023-08-23 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with thrombocytopenia (PMID: 21467542, 22672365, 32581362). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 626942). 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. This variant is not present in population databases (gnomAD no frequency). 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.
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245644 SCV002515717 pathogenic Thrombocytopenia 2 no assertion criteria provided research

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