ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1193G>A (p.Arg398Gln)

gnomAD frequency: 0.00004  dbSNP: rs202022975
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005094303 SCV005817402 likely benign Hereditary hemochromatosis 2024-12-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278035 SCV001465027 likely benign Hemochromatosis type 3 2020-08-18 no assertion criteria provided clinical testing

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