ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.37+7G>T

dbSNP: rs1229883838
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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) RCV000733920 SCV000862025 uncertain significance not provided 2018-07-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003768238 SCV004678020 likely benign Familial hemophagocytic lymphohistiocytosis 5 2024-01-25 criteria provided, single submitter clinical testing

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