ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.927C>T (p.Thr309=)

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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 RCV003645387 SCV004371537 likely benign Familial hemophagocytic lymphohistiocytosis 5 2023-12-23 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003948899 SCV004765585 likely benign STXBP2-related disorder 2019-04-09 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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