ClinVar Miner

Submissions for variant NM_025150.5(TARS2):c.1719-17C>A

dbSNP: rs201218331
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000427699 SCV000520666 likely benign not specified 2017-11-17 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002062423 SCV002405445 benign not provided 2025-01-02 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002480298 SCV002796727 likely benign Combined oxidative phosphorylation defect type 21 2021-09-27 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV002062423 SCV005261624 likely benign not provided criteria provided, single submitter not provided

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