Submissions for variant NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=)

gnomAD frequency: 0.00001  dbSNP: rs747257110

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000439875	SCV000526899	likely benign	not specified	2016-05-05	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)	RCV000730403	SCV000858136	uncertain significance	not provided	2018-05-15	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083693	SCV001129344	likely benign	Citrin deficiency	2024-10-10	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000730403	SCV003823366	uncertain significance	not provided	2020-08-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003897892	SCV004717265	likely benign	SLC25A13-related disorder	2021-05-10	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).