Submissions for variant NM_032229.3(SLITRK6):c.327T>C (p.Asn109=)

gnomAD frequency: 0.02230  dbSNP: rs35119660

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000600609	SCV000713608	benign	not specified	2017-08-23	criteria provided, single submitter	clinical testing	p.Asn109Asn in exon 2 of SLITRK6: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 3.06% (300/9794) o f African chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.bro adinstitute.org; dbSNP rs35119660).
GeneDx	RCV000600609	SCV000717216	benign	not specified	2017-11-02	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Athena Diagnostics	RCV000993088	SCV001145819	benign	not provided	2019-07-12	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000993088	SCV002335187	benign	not provided	2025-01-29	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000993088	SCV005230972	benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003980127	SCV004788404	benign	SLITRK6-related disorder	2019-07-15	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).