ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=)

dbSNP: rs797040235
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000616973 SCV001648291 likely benign 3-Methylglutaconic aciduria type 2 2023-10-20 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000616973 SCV000734768 likely benign 3-Methylglutaconic aciduria type 2 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001701399 SCV001922615 benign not specified no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001726275 SCV001963450 likely benign not provided no assertion criteria provided clinical testing

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