ClinVar Miner

Submissions for variant NM_001134665.3(TRMT10A):c.955C>A (p.Pro319Thr)

gnomAD frequency: 0.00084  dbSNP: rs143207059
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501506 SCV000597585 uncertain significance not specified 2017-05-17 criteria provided, single submitter clinical testing
Invitae RCV000911862 SCV001056942 likely benign not provided 2024-01-26 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003935316 SCV004766031 likely benign TRMT10A-related condition 2022-08-10 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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