Submissions for variant NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)

gnomAD frequency: 0.00025  dbSNP: rs374582872

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000923392	SCV001068865	likely benign	Salla disease	2024-11-06	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV003169320	SCV003855209	likely benign	Inborn genetic diseases	2023-01-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CeGaT Center for Human Genetics Tuebingen	RCV003432920	SCV004159747	likely benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	SLC17A5: BP4, BP7
Natera, Inc.	RCV000923392	SCV001453704	uncertain significance	Salla disease	2020-02-13	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004543467	SCV004768453	likely benign	SLC17A5-related disorder	2020-02-21	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).