ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.767T>G (p.Leu256Arg)

gnomAD frequency: 0.00062  dbSNP: rs200287731
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 RCV001518713 SCV001727459 benign Hereditary hemochromatosis 2024-12-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826375 SCV002079945 likely benign Hemochromatosis type 3 2021-05-04 no assertion criteria provided clinical testing

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