ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.374A>C (p.Glu125Ala)

gnomAD frequency: 0.00006  dbSNP: rs749842107
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 RCV000863669 SCV001004370 likely benign Hereditary hemochromatosis 2025-01-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278040 SCV001465032 benign Hemochromatosis type 3 2020-09-24 no assertion criteria provided clinical testing

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