Submissions for variant NM_006949.4(STXBP2):c.*12G>A

gnomAD frequency: 0.02393  dbSNP: rs28464386

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000242223	SCV000311653	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000261409	SCV000415698	likely benign	Familial hemophagocytic lymphohistiocytosis 5	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000421472	SCV000511477	benign	not provided	2016-09-23	criteria provided, single submitter	clinical testing
Invitae	RCV000261409	SCV001719514	benign	Familial hemophagocytic lymphohistiocytosis 5	2023-05-15	criteria provided, single submitter	clinical testing
GeneDx	RCV000421472	SCV001883584	benign	not provided	2020-06-10	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 27884173, 21881043)
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262892	SCV002542974	benign	Autoinflammatory syndrome	2021-08-12	criteria provided, single submitter	clinical testing