ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.960+9G>A

gnomAD frequency: 0.00005  dbSNP: rs371345040
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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 RCV002163524 SCV002463891 likely benign Familial hemophagocytic lymphohistiocytosis 5 2023-10-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003895993 SCV004715816 likely benign STXBP2-related disorder 2021-05-12 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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