ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1697-26T>G

dbSNP: rs794073
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000247984 SCV000311677 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001636793 SCV001849694 benign not provided 2018-11-12 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815263 SCV002062182 benign Familial hemophagocytic lymphohistiocytosis 5 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000247984 SCV004102599 benign not specified 2023-11-12 criteria provided, single submitter clinical testing This variant is classified as Benign based on local population frequency. This variant was detected in 89% of patients studied by a panel of primary immunodeficiencies. Number of patients: 85. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001636793 SCV005313196 benign not provided criteria provided, single submitter not provided

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