ClinVar Miner

Submissions for variant NM_003227.3(TFR2):c.1364G>A (p.Arg455Gln) (rs41303501)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneReviews RCV000020537 SCV000041003 benign Hemochromatosis type 3 2011-06-09 no assertion criteria provided curation Converted during submission to Benign.
Invitae RCV000168108 SCV000218764 likely benign Hereditary hemochromatosis 2017-06-27 criteria provided, single submitter clinical testing
OMIM RCV000005714 SCV000025896 risk factor Hemochromatosis, type 1, modifier of 2002-08-01 no assertion criteria provided literature only

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