ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.110-17=

gnomAD frequency: 0.99999  dbSNP: rs62617809
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030474 SCV000053144 uncertain 3-Methylglutaconic aciduria type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
PreventionGenetics, part of Exact Sciences RCV000245792 SCV000302328 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000030474 SCV001721895 benign 3-Methylglutaconic aciduria type 2 2025-02-04 criteria provided, single submitter clinical testing
GeneDx RCV001682716 SCV001900116 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000245792 SCV001953772 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000245792 SCV001965543 benign not specified no assertion criteria provided clinical testing

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