ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.303G>A (p.Ala101=)

gnomAD frequency: 0.00002  dbSNP: rs766198135
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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 RCV001957443 SCV002204645 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-11-04 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002264428 SCV002542997 uncertain significance Autoinflammatory syndrome 2017-10-02 criteria provided, single submitter clinical testing

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