ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.165C>T (p.Ile55=)

gnomAD frequency: 0.00060  dbSNP: rs11538945
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245381 SCV000311671 likely benign not specified criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000245381 SCV000597324 likely benign not specified 2015-11-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000967668 SCV001115070 benign Familial hemophagocytic lymphohistiocytosis 5 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262896 SCV002542994 likely benign Autoinflammatory syndrome 2020-05-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000967668 SCV002798644 likely benign Familial hemophagocytic lymphohistiocytosis 5 2022-04-20 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004703541 SCV005208081 likely benign not provided criteria provided, single submitter not provided

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