ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1232ACA[1] (p.Asn412del)

dbSNP: rs80338883
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000020535 SCV004203685 likely pathogenic Hemochromatosis type 3 2024-01-28 criteria provided, single submitter clinical testing
GeneReviews RCV000020535 SCV000041001 not provided Hemochromatosis type 3 no assertion provided literature only

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