ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.840C>G (p.Phe280Leu)

gnomAD frequency: 0.00038  dbSNP: rs151198873
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000301344 SCV000340746 uncertain significance not provided 2016-03-23 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000552574 SCV000633741 likely benign Hereditary hemochromatosis 2024-11-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275100 SCV001459854 uncertain significance Hemochromatosis type 3 2020-01-14 no assertion criteria provided clinical testing

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