ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1762A>T (p.Met588Leu)

gnomAD frequency: 0.00123  dbSNP: rs143251494
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000862131 SCV001002587 likely benign Hereditary hemochromatosis 2024-01-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705798 SCV005221152 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001273131 SCV001455736 likely benign Hemochromatosis type 3 2020-04-16 no assertion criteria provided clinical testing

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