Submissions for variant NM_000144.5(FXN):c.54A>G (p.Pro18=) (rs2481598)

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics	RCV000117105	SCV000224153	benign	not specified	2016-03-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000252378	SCV000317574	benign	Cardiovascular phenotype	2015-03-11	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: 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.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV001282561	SCV000603760	benign	none provided	2020-08-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000676782	SCV001143972	benign	not provided	2019-03-01	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000117105	SCV000151248	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000602503	SCV000734703	benign	Friedreich ataxia 1		no assertion criteria provided	clinical testing
Mayo Clinic Laboratories, Mayo Clinic	RCV000676782	SCV000802584	benign	not provided	2016-02-15	no assertion criteria provided	clinical testing