Submissions for variant NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup)

dbSNP: rs41550117

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000188532	SCV000248552	likely benign	not specified	2015-04-06	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000224549	SCV000280678	likely benign	not provided	2015-08-26	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001080808	SCV000556233	likely benign	Progressive sclerosing poliodystrophy	2024-01-31	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000188532	SCV000707571	benign	not specified	2017-04-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311277	SCV000847019	benign	Inborn genetic diseases	2017-09-14	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.
GeneDx	RCV000224549	SCV001910327	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002492867	SCV002798504	likely benign	Progressive sclerosing poliodystrophy; Mitochondrial DNA depletion syndrome 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; Mitochondrial DNA depletion syndrome 4b	2021-09-23	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000224549	SCV004130853	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	POLG: BS1, BS2
GeneDx	RCV000188532	SCV000242147	benign	not specified	2014-08-19	flagged submission	clinical testing	The variant is found in POLG panel(s).
Mayo Clinic Laboratories, Mayo Clinic	RCV000224549	SCV000802103	likely benign	not provided	2016-02-29	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000188532	SCV001742639	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000224549	SCV001929050	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000188532	SCV001973521	benign	not specified		no assertion criteria provided	clinical testing