Submissions for variant NM_003764.4(STX11):c.146G>A (p.Arg49Gln)

gnomAD frequency: 0.00767  dbSNP: rs17073498

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000241640	SCV000309824	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000557610	SCV000460630	benign	Familial hemophagocytic lymphohistiocytosis 4	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV000557610	SCV000644899	benign	Familial hemophagocytic lymphohistiocytosis 4	2024-01-31	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000241640	SCV002103714	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002262882	SCV002542963	benign	Autoinflammatory syndrome	2022-02-23	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000557610	SCV002800595	likely benign	Familial hemophagocytic lymphohistiocytosis 4	2022-04-07	criteria provided, single submitter	clinical testing