ClinVar Miner

Submissions for variant NM_000096.4(CP):c.2058C>T (p.His686=)

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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 RCV005184503 SCV005817542 likely benign Deficiency of ferroxidase 2024-09-27 criteria provided, single submitter clinical testing

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