ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.663+19del

dbSNP: rs111268794
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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 RCV001513974 SCV001721694 benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003940916 SCV004760721 benign STXBP2-related disorder 2021-12-28 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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