ClinVar Miner

Submissions for variant NM_006949.4(STXBP2):c.1198_1199insGGCCCG (p.Pro399_Ala400insGlyPro)

dbSNP: rs1568469885
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714835 SCV000845572 uncertain significance Familial hemophagocytic lymphohistiocytosis 5 2018-08-07 criteria provided, single submitter clinical testing

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