ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.846C>T (p.Asp282=)

gnomAD frequency: 0.00080  dbSNP: rs143108973
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000970663 SCV001118253 benign Familial hemophagocytic lymphohistiocytosis 5 2025-01-25 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004717735 SCV005313173 benign not provided criteria provided, single submitter not provided
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV005056706 SCV005725856 likely benign not specified 2024-11-25 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003928492 SCV004747692 likely benign STXBP2-related disorder 2020-02-11 no assertion criteria provided 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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