ClinVar Miner

Submissions for variant NM_020810.3(TRMT5):c.222A>G (p.Ser74=)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV002511779 SCV002822139 likely benign not provided 2024-06-01 criteria provided, single submitter clinical testing TRMT5: BP4, BP7, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV002511779 SCV003453093 benign not provided 2024-01-22 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003896213 SCV004718228 likely benign TRMT5-related disorder 2019-04-24 no assertion criteria provided 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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