ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.953C>T (p.Thr318Met)

gnomAD frequency: 0.00016  dbSNP: rs201293382
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000904295 SCV001048807 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264074 SCV002543013 uncertain significance Autoinflammatory syndrome 2020-06-01 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003222169 SCV003918048 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing STXBP2: BS1
GeneDx RCV003222169 SCV004030837 uncertain significance not provided 2023-02-22 criteria provided, single submitter clinical testing Reported in the heterozygous state without a second STXBP2 variant in patients with hemophagocytic lymphohistiocytosis (Chen et al., 2018; Xinh et al., 2021); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 29665027, 34170459, 30899265, 34339548)

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