ClinVar Miner

Submissions for variant NM_000116.5(TAFAZZIN):c.778-63_778-51del

dbSNP: rs782249471
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001521365 SCV001730698 benign 3-Methylglutaconic aciduria type 2 2023-04-05 criteria provided, single submitter clinical testing
GeneDx RCV001712940 SCV001944670 benign not provided 2018-10-01 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003908869 SCV004726776 likely benign TAFAZZIN-related condition 2020-03-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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