ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.474-5C>T

gnomAD frequency: 0.00001  dbSNP: rs1369420781
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002541672 SCV003511229 likely benign Hereditary hemochromatosis 2022-05-04 criteria provided, single submitter clinical testing
Natera, Inc. RCV001278038 SCV001465030 uncertain significance Hemochromatosis type 3 2020-08-14 no assertion criteria provided clinical testing

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