Submissions for variant NM_003849.4(SUCLG1):c.202-4T>C

gnomAD frequency: 0.00063  dbSNP: rs141973418

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000128336	SCV000171929	benign	not specified	2013-11-14	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.
Illumina Laboratory Services, Illumina	RCV000310983	SCV000432152	uncertain significance	Mitochondrial DNA depletion syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000356495	SCV000432153	uncertain significance	Mitochondrial DNA depletion syndrome 9	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000356495	SCV001018827	benign	Mitochondrial DNA depletion syndrome 9	2025-01-24	criteria provided, single submitter	clinical testing
Elsea Laboratory, Baylor College of Medicine	RCV000356495	SCV001424293	likely benign	Mitochondrial DNA depletion syndrome 9	2020-04-01	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529336	SCV001742608	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000128336	SCV001967996	benign	not specified		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004757133	SCV005352081	benign	SUCLG1-related disorder	2024-08-05	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).