ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1538+12G>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003138854 SCV003818132 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2020-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003138854 SCV004433115 likely benign Familial hemophagocytic lymphohistiocytosis 5 2023-03-07 criteria provided, single submitter clinical testing

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