ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.590A>G (p.Tyr197Cys)

gnomAD frequency: 0.00006  dbSNP: rs187119131
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000475827 SCV000561054 likely benign Hereditary hemochromatosis 2024-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003915309 SCV004730135 likely benign TFR2-related disorder 2023-08-30 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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