ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)

gnomAD frequency: 0.00866  dbSNP: rs141309384
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000174911 SCV000226309 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000174911 SCV000311662 likely benign not specified criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000174911 SCV000540478 likely benign not specified 2016-03-29 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: 1.6% of total chromosomes in ExAC, 2.7% (44/1612) of Latino chromosomes
Genetic Services Laboratory, University of Chicago RCV000174911 SCV000597326 likely benign not specified 2017-02-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000552531 SCV000648528 benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000552531 SCV001140967 benign Familial hemophagocytic lymphohistiocytosis 5 2019-05-28 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262768 SCV002542982 likely benign Autoinflammatory syndrome 2022-04-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003416073 SCV004146480 benign not provided 2022-11-01 criteria provided, single submitter clinical testing STXBP2: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics RCV003416073 SCV005208093 likely benign not provided criteria provided, single submitter not provided

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