ClinVar Miner

Submissions for variant NM_000096.4(CP):c.981G>A (p.Val327=)

gnomAD frequency: 0.00026  dbSNP: rs144467178
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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 RCV001946451 SCV002208868 benign Deficiency of ferroxidase 2023-10-10 criteria provided, single submitter clinical testing

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