ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1431G>A (p.Pro477=)

gnomAD frequency: 0.00015  dbSNP: rs137978942
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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 RCV001473740 SCV001677897 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003936226 SCV004765683 likely benign STXBP2-related disorder 2019-03-26 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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