ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.287-5G>A

gnomAD frequency: 0.00032  dbSNP: rs201206874
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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 RCV000862551 SCV001003070 likely benign Hereditary hemochromatosis 2024-12-09 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004705800 SCV005221153 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001275104 SCV001459858 uncertain significance Hemochromatosis type 3 2020-02-13 no assertion criteria provided clinical testing

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