ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=)

gnomAD frequency: 0.00001  dbSNP: rs587781186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000128359 SCV000171953 benign not specified 2011-07-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000128359 SCV001519465 likely benign not specified 2021-03-15 criteria provided, single submitter clinical testing
Invitae RCV003621505 SCV004454147 likely benign 3-Methylglutaconic aciduria type 2 2023-04-06 criteria provided, single submitter clinical testing

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