ClinVar Miner

Submissions for variant NM_014915.3(ANKRD26):c.2392G>T (p.Glu798Ter)

gnomAD frequency: 0.00001  dbSNP: rs560561829
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004591851 SCV005081340 uncertain significance not provided 2023-07-31 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is not a known mechanism of disease
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology RCV002245455 SCV002515721 likely pathogenic Thrombocytopenia 2 no assertion criteria provided research

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