ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2346G>A (p.Thr782=)

gnomAD frequency: 0.00005  dbSNP: rs367723987
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 RCV000861773 SCV001002172 likely benign Hereditary hemochromatosis 2025-01-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273127 SCV001455732 likely benign Hemochromatosis type 3 2020-04-16 no assertion criteria provided clinical testing

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