Submissions for variant NM_006949.4(STXBP2):c.1538+10C>T

gnomAD frequency: 0.00210  dbSNP: rs139200597

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000245154	SCV000311665	likely benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000245154	SCV000340687	likely benign	not specified	2016-03-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000647338	SCV000769128	benign	Familial hemophagocytic lymphohistiocytosis 5	2024-01-29	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000245154	SCV002066026	likely benign	not specified	2021-04-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000245154	SCV005205167	likely benign	not specified	2024-06-17	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001702396	SCV001930918	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001702396	SCV001970206	likely benign	not provided		no assertion criteria provided	clinical testing