ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1503C>T (p.Ala501=)

gnomAD frequency: 0.00001  dbSNP: rs754040201
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002111622 SCV002390965 likely benign Hereditary hemochromatosis 2024-09-15 criteria provided, single submitter clinical testing

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