ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.609C>T (p.His203=)

gnomAD frequency: 0.00367  dbSNP: rs113694233
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000243229 SCV000311682 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000546219 SCV000648536 benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-31 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children RCV002262900 SCV002543003 likely benign Autoinflammatory syndrome 2019-01-01 criteria provided, single submitter clinical testing

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