ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1626T>C (p.Ser542=)

gnomAD frequency: 0.00002  dbSNP: rs781300326
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 RCV001393950 SCV001595627 likely benign Hereditary hemochromatosis 2024-06-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001273133 SCV001455738 uncertain significance Hemochromatosis type 3 2020-01-24 no assertion criteria provided clinical testing

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