Submissions for variant NM_001379110.1(SLC9A6):c.-16C>T

gnomAD frequency: 0.00003  dbSNP: rs139299794

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel	RCV001078789	SCV002540684	likely benign	Christianson syndrome	2022-02-19	reviewed by expert panel	curation	The allele frequency of the p.Gly47= variant in SLC9A6 is 0.008% in European (Non-Finnish) sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The silent p.Gly47= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Gly47= variant in SLC9A6 is classified as likely benign based on the ACMG/AMP criteria (BS1, BP7).
GeneDx	RCV000213002	SCV000171755	benign	not specified	2014-05-07	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.
Eurofins Ntd Llc (ga)	RCV000724400	SCV000224515	uncertain significance	not provided	2014-12-18	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078789	SCV001010187	likely benign	Christianson syndrome	2023-10-11	criteria provided, single submitter	clinical testing