ClinVar Miner

Submissions for variant NM_000410.4(HFE):c.913C>T (p.Leu305=)

gnomAD frequency: 0.00001  dbSNP: rs571150642
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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 RCV002097485 SCV002382096 likely benign Hereditary hemochromatosis 2024-07-15 criteria provided, single submitter clinical testing

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