ClinVar Miner

Submissions for variant NM_002221.4(ITPKB):c.1655C>A (p.Pro552Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology RCV002284271 SCV002573666 likely pathogenic Myeloproliferative neoplasm, unclassifiable 2022-08-25 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV003491071 SCV004233488 benign not specified 2024-01-24 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 99% of patients studied by a panel of primary immunodeficiencies. Number of patients: 94. Only high quality variants are reported.

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