ClinVar Miner

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

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Total submissions: 7
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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

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