ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.772+8G>A

gnomAD frequency: 0.00048  dbSNP: rs201372242
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725833 SCV000339754 uncertain significance not provided 2018-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000371305 SCV000514969 benign not specified 2015-07-29 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.
Invitae RCV000725833 SCV001690162 likely benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003957455 SCV004775960 likely benign TRMU-related disorder 2023-11-07 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).
Natera, Inc. RCV001828228 SCV002076157 likely benign Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2020-08-24 no assertion criteria provided clinical testing

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