ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV003329097 SCV004024604 likely pathogenic 3-Methylglutaconic aciduria type 2 criteria provided, single submitter clinical testing

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