Submissions for variant NM_001379110.1(SLC9A6):c.1460+4A>G

gnomAD frequency: 0.00239  dbSNP: rs180727016

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000081395	SCV000113326	benign	not specified	2013-07-11	criteria provided, single submitter	clinical testing
GeneDx	RCV000081395	SCV000171747	benign	not specified	2013-02-04	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	RCV000081395	SCV000194984	benign	not specified	2015-08-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000990952	SCV000289509	benign	Christianson syndrome	2025-02-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311631	SCV000845894	benign	Inborn genetic diseases	2019-05-14	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.
Mendelics	RCV000990952	SCV001142023	benign	Christianson syndrome	2019-05-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000081395	SCV005620927	benign	not specified	2024-10-22	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001705756	SCV001932226	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001705756	SCV001969958	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003935053	SCV004749972	benign	SLC9A6-related disorder	2019-07-18	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).