Submissions for variant NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile)

gnomAD frequency: 0.00204  dbSNP: rs150242281

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000147504	SCV000194941	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000147504	SCV000230434	likely benign	not specified	2014-11-13	criteria provided, single submitter	clinical testing
GeneDx	RCV001701768	SCV000242943	benign	not provided	2021-06-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000547913	SCV000634004	benign	Early infantile epileptic encephalopathy with suppression bursts	2025-02-02	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312974	SCV000847847	benign	Inborn genetic diseases	2017-09-30	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001701768	SCV001927187	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001701768	SCV001970074	likely benign	not provided		no assertion criteria provided	clinical testing