ClinVar Miner

Submissions for variant NM_001127208.3(TET2):c.521C>A (p.Pro174His)

gnomAD frequency: 0.00144  dbSNP: rs146031219
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000122130 SCV002516078 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002262716 SCV002544892 likely benign not provided 2023-02-01 criteria provided, single submitter clinical testing TET2: BP4, BS2
Labcorp Genetics (formerly Invitae), Labcorp RCV002262716 SCV003252605 likely benign not provided 2025-02-02 criteria provided, single submitter clinical testing
ITMI RCV000122130 SCV000086345 not provided not specified 2013-09-19 no assertion provided reference population
PreventionGenetics, part of Exact Sciences RCV003952616 SCV004773027 likely benign TET2-related disorder 2022-05-20 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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