ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1530C>T (p.Ala510=)

gnomAD frequency: 0.00016  dbSNP: rs755717157
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000887079 SCV001030618 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003489957 SCV004240970 likely benign not specified 2023-12-12 criteria provided, single submitter clinical testing

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