ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.495C>T (p.Arg165=)

gnomAD frequency: 0.00164  dbSNP: rs2303116
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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 RCV000246709 SCV000311680 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000324162 SCV000415676 likely benign Familial hemophagocytic lymphohistiocytosis 2016-06-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000529320 SCV000648535 benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV001683061 SCV001897195 benign not provided 2021-02-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 32517705)
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262898 SCV002542999 benign Autoinflammatory syndrome 2020-02-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001683061 SCV005208084 likely benign not provided criteria provided, single submitter not provided

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