ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.849G>A (p.Glu283=)

gnomAD frequency: 0.00997  dbSNP: rs34450592
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248506 SCV000311686 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000375641 SCV000415680 uncertain significance Familial hemophagocytic lymphohistiocytosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000560102 SCV000648540 benign Familial hemophagocytic lymphohistiocytosis 5 2024-02-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262901 SCV002543010 benign Autoinflammatory syndrome 2020-05-01 criteria provided, single submitter clinical testing

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