ClinVar Miner

Submissions for variant NM_003227.4(TFR2):c.1251C>A (p.Ile417=)

dbSNP: rs747076627
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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 RCV003080217 SCV003481579 likely benign Hereditary hemochromatosis 2023-12-03 criteria provided, single submitter clinical testing

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