ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2184G>A (p.Pro728=)

gnomAD frequency: 0.00004  dbSNP: rs982999802
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 RCV001435778 SCV001638604 likely benign Hereditary hemochromatosis 2024-03-16 criteria provided, single submitter clinical testing
Natera, Inc. RCV001836404 SCV002079923 likely benign Hemochromatosis type 3 2020-05-08 no assertion criteria provided clinical testing

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