ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His)

dbSNP: rs2148212627
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226858 SCV002505746 uncertain significance 3-Methylglutaconic aciduria type 2 2021-08-01 criteria provided, single submitter clinical testing

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