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

gnomAD frequency: 0.98511  dbSNP: rs2481598

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000117105	SCV000224153	benign	not specified	2016-03-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002310675	SCV000317574	benign	Inborn genetic diseases	2015-03-11	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000676782	SCV000603760	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000676782	SCV001143972	benign	not provided	2019-03-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000602503	SCV001933672	benign	Friedreich ataxia 1	2021-08-10	criteria provided, single submitter	clinical testing
GeneDx	RCV000676782	SCV001944792	benign	not provided	2019-08-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000676782	SCV005266175	benign	not provided		criteria provided, single submitter	not provided
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000117105	SCV001951868	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000117105	SCV001968473	benign	not specified		no assertion criteria provided	clinical testing