ClinVar Miner

Submissions for variant NM_000144.5(FXN):c.179G>A (p.Arg60His) (rs141858334)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194546 SCV000247440 uncertain significance not specified 2015-03-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000252988 SCV000319146 likely benign Cardiovascular phenotype 2013-11-20 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Athena Diagnostics Inc RCV000991334 SCV000613360 benign not provided 2019-03-20 criteria provided, single submitter clinical testing

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