ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.822G>A (p.Ala274=)

gnomAD frequency: 0.00090  dbSNP: rs138099253
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000889372 SCV001033049 benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-29 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264051 SCV002543009 uncertain significance Autoinflammatory syndrome 2021-11-04 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948408 SCV004773129 likely benign STXBP2-related disorder 2020-03-10 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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