ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1108-10A>G

gnomAD frequency: 0.00001  dbSNP: rs765625177
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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 RCV000551019 SCV000648525 likely benign Familial hemophagocytic lymphohistiocytosis 5 2023-11-19 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004704084 SCV005208089 likely benign not provided criteria provided, single submitter not provided

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