ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1403G>A (p.Arg468His)

gnomAD frequency: 0.00066  dbSNP: rs80338885
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000205036 SCV000259504 likely benign Hereditary hemochromatosis 2025-01-30 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000260840 SCV000332699 uncertain significance not provided 2015-07-10 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000260840 SCV005195469 uncertain significance not provided criteria provided, single submitter not provided
Department of Pathology and Laboratory Medicine, Sinai Health System RCV000020538 SCV006056548 uncertain significance Hemochromatosis type 3 2022-03-08 criteria provided, single submitter research
GeneReviews RCV000020538 SCV000041004 not provided Hemochromatosis type 3 no assertion provided literature only

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