ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1458C>T (p.Ala486=)

gnomAD frequency: 0.00013  dbSNP: rs140877133
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000913892 SCV001059051 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-31 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895554 SCV004708570 likely benign STXBP2-related disorder 2022-11-18 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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