Submissions for variant NM_001379110.1(SLC9A6):c.*8A>T

gnomAD frequency: 0.00157  dbSNP: rs200171451

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV000861304	SCV002540701	benign	Christianson syndrome	2022-02-18	reviewed by expert panel	curation	The allele frequency of the c.*8A>T variant in SLC9A6 is 0.1% in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the c.*8A>T variant in SLC9A6 is classified as benign based on the ACMG/AMP criteria (BA1).
GeneDx	RCV000128162	SCV000171754	benign	not specified	2014-04-25	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.
Ambry Genetics	RCV000715114	SCV000845940	uncertain significance	History of neurodevelopmental disorder	2016-07-15	criteria provided, single submitter	clinical testing	There is insufficient or conflicting evidence for classification of this alteration.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000861304	SCV001001577	benign	Christianson syndrome	2024-05-20	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000128162	SCV002068768	benign	not specified	2017-08-18	criteria provided, single submitter	clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	RCV001251649	SCV001427389	likely benign	Intellectual disability	2019-01-01	no assertion criteria provided	clinical testing