Submissions for variant NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=)

gnomAD frequency: 0.00010  dbSNP: rs199887745

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000189310	SCV000242945	benign	not specified	2015-01-09	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001088046	SCV000560570	likely benign	Early infantile epileptic encephalopathy with suppression bursts	2024-01-07	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000726714	SCV000702339	uncertain significance	not provided	2016-10-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002327018	SCV002630213	likely benign	Inborn genetic diseases	2018-04-03	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.
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000726714	SCV001928651	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000726714	SCV001967699	likely benign	not provided		no assertion criteria provided	clinical testing