ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)

dbSNP: rs104894937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV000011857 SCV003935934 uncertain significance 3-Methylglutaconic aciduria type 2 2020-08-17 criteria provided, single submitter clinical testing
OMIM RCV000011857 SCV000032090 pathogenic 3-Methylglutaconic aciduria type 2 2001-03-06 no assertion criteria provided literature only

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