ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.759G>A (p.Ala253=)

gnomAD frequency: 0.00005  dbSNP: rs145260482
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001415315 SCV001617473 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264087 SCV002543007 uncertain significance Autoinflammatory syndrome 2016-12-12 criteria provided, single submitter clinical testing

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