ClinVar Miner

Submissions for variant NM_015271.5(TRIM2):c.122G>A (p.Arg41His)

gnomAD frequency: 0.00161  dbSNP: rs146705057
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000532686 SCV000654624 likely benign Charcot-Marie-Tooth disease type 2R 2024-01-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092651 SCV001249259 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing TRIM2: BS2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000532686 SCV001472501 likely benign Charcot-Marie-Tooth disease type 2R 2019-10-30 criteria provided, single submitter clinical testing
GeneDx RCV001092651 SCV001773324 likely benign not provided 2020-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980015 SCV004793987 likely benign TRIM2-related condition 2022-10-04 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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