ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1453-10C>T

gnomAD frequency: 0.00003  dbSNP: rs368488488
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001495291 SCV001699969 likely benign Familial hemophagocytic lymphohistiocytosis 5 2023-12-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264061 SCV002542984 likely benign Autoinflammatory syndrome 2021-02-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920818 SCV004736358 likely benign STXBP2-related disorder 2019-05-24 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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