ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003237271 SCV003935907 likely pathogenic 3-Methylglutaconic aciduria type 2 2020-08-07 criteria provided, single submitter clinical testing

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