ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1696+28G>C

gnomAD frequency: 0.34997  dbSNP: rs34976997
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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 RCV000250624 SCV000311675 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001683060 SCV001902467 benign not provided 2021-06-19 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001815262 SCV002062171 benign Familial hemophagocytic lymphohistiocytosis 5 2021-07-15 criteria provided, single submitter clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan RCV000250624 SCV004102174 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 48% of patients studied by a panel of primary immunodeficiencies. Number of patients: 46. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics RCV001683060 SCV005313194 benign not provided criteria provided, single submitter not provided

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