ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.177T>C (p.Pro59=)

gnomAD frequency: 0.00001  dbSNP: rs961591005
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 RCV000872992 SCV001014907 likely benign Hereditary hemochromatosis 2025-01-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001830916 SCV002079950 likely benign Hemochromatosis type 3 2021-02-09 no assertion criteria provided clinical testing

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