ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1197C>T (p.Pro399=)

gnomAD frequency: 0.00001  dbSNP: rs756948868
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000728503 SCV000856084 uncertain significance not provided 2017-08-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079084 SCV001053209 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-25 criteria provided, single submitter clinical testing

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