Submissions for variant NM_032229.3(SLITRK6):c.2195G>A (p.Gly732Glu)

gnomAD frequency: 0.00539  dbSNP: rs74591375

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000879210	SCV000717859	benign	not provided	2019-05-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000611491	SCV000858262	likely benign	not specified	2017-12-01	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000611491	SCV000966339	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Gly732Glu in exon 2 of SLITRK6: This variant is not expected to have clinical significance because it has been identified in 0.73% (485/66704) of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; dbSNP rs74591375).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000879210	SCV001022226	likely benign	not provided	2025-01-23	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000879210	SCV001145817	benign	not provided	2018-12-10	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000879210	SCV001149064	likely benign	not provided	2023-12-01	criteria provided, single submitter	clinical testing	SLITRK6: BS2
PreventionGenetics, part of Exact Sciences	RCV003917907	SCV004736154	benign	SLITRK6-related disorder	2019-07-24	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).