ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.2036G>A (p.Gly679Glu)

gnomAD frequency: 0.00001  dbSNP: rs1060502724
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002230394 SCV000550572 uncertain significance Hereditary hemochromatosis 2021-08-31 criteria provided, single submitter clinical testing

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