ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.612C>T (p.Ala204=)

gnomAD frequency: 0.00004  dbSNP: rs113033216
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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 RCV002126839 SCV002391694 likely benign Familial hemophagocytic lymphohistiocytosis 5 2023-12-11 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700625 SCV005204482 likely benign not specified 2024-06-11 criteria provided, single submitter clinical testing

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