Submissions for variant NM_006949.4(STXBP2):c.1191G>A (p.Ala397=)

gnomAD frequency: 0.00700  dbSNP: rs76836497

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244064	SCV000311659	likely benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000647342	SCV000769132	benign	Familial hemophagocytic lymphohistiocytosis 5	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000647342	SCV001296049	likely benign	Familial hemophagocytic lymphohistiocytosis 5	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genetic Services Laboratory, University of Chicago	RCV000244064	SCV002066024	benign	not specified	2020-10-01	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262894	SCV002542980	likely benign	Autoinflammatory syndrome	2019-12-01	criteria provided, single submitter	clinical testing