ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.960+18T>A

gnomAD frequency: 0.00101  dbSNP: rs200402185
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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 RCV002134718 SCV002413308 benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004700636 SCV005202987 likely benign not specified 2024-07-22 criteria provided, single submitter clinical testing

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