ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.795-4C>T

gnomAD frequency: 0.01197  dbSNP: rs151257815
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000173826 SCV000224981 benign not specified 2015-05-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003891706 SCV000311684 benign STXBP2-related condition 2024-01-28 criteria provided, single submitter 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).
Invitae RCV000530674 SCV000648538 benign Familial hemophagocytic lymphohistiocytosis 5 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262766 SCV002543008 benign Autoinflammatory syndrome 2020-04-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000530674 SCV002801234 benign Familial hemophagocytic lymphohistiocytosis 5 2022-05-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003422065 SCV004146479 benign not provided 2024-01-01 criteria provided, single submitter clinical testing STXBP2: BP4, BS1, BS2

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