ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.984A>G (p.Gly328=)

dbSNP: rs372774524
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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 RCV001481489 SCV001685834 likely benign Hereditary hemochromatosis 2024-07-03 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003956064 SCV004768835 likely benign TFR2-related disorder 2022-04-22 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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