ClinVar Miner

Submissions for variant NM_000144.5(FXN):c.517T>G (p.Trp173Gly)

dbSNP: rs56214919
Minimum review status: Collection method:
Minimum conflict level:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004191 SCV000024357 likely pathogenic Friedreich ataxia 2010-12-30 no assertion criteria provided literature only

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