Submissions for variant NM_001379110.1(SLC9A6):c.1662-4G>A

gnomAD frequency: 0.00703  dbSNP: rs188072063

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147538	SCV000171752	benign	not specified	2012-04-19	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.
Genetic Services Laboratory, University of Chicago	RCV000147538	SCV000194985	benign	not specified	2015-05-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147538	SCV000226308	benign	not specified	2014-12-09	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000228298	SCV000289510	benign	Christianson syndrome	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312606	SCV000845945	benign	Inborn genetic diseases	2016-05-05	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Athena Diagnostics	RCV000857967	SCV001145712	benign	not provided	2018-10-17	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000857967	SCV005279576	benign	not provided		criteria provided, single submitter	not provided
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000228298	SCV005878033	benign	Christianson syndrome	2024-04-03	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000228298	SCV000734744	benign	Christianson syndrome		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000857967	SCV001798317	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000147538	SCV001928358	benign	not specified		no assertion criteria provided	clinical testing