ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.110-6C>G

gnomAD frequency: 0.00001  dbSNP: rs782099193
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772850 SCV001994339 uncertain significance not provided 2019-08-16 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis, which includes splice predictors and evolutionary conservation, suggests this variant may impact gene splicing; in the absence of RNA/functional studies, the actual effect of this sequence change is unknown
Labcorp Genetics (formerly Invitae), Labcorp RCV002544039 SCV003274519 likely benign 3-Methylglutaconic aciduria type 2 2024-01-25 criteria provided, single submitter clinical testing

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