ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1538+17G>A

gnomAD frequency: 0.00001  dbSNP: rs886038579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000248081 SCV000311666 likely benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002058217 SCV002446991 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-16 criteria provided, single submitter clinical testing

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