ClinVar Miner

Submissions for variant NM_000116.5(TAZ):c.836del (p.Thr279fs) (rs1557194525)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics RCV000503128 SCV000590940 likely pathogenic 3-Methylglutaconic aciduria type 2 2017-08-21 no assertion criteria provided clinical testing This variant has not been reported in 1000 Genomes and ExAC databases. The in silico prediction of this variant is damaging by MutationTaster2.

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