ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1632= (p.Glu544=)

gnomAD frequency: 0.13148  dbSNP: rs701753
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000530390 SCV000636874 benign Deficiency of ferroxidase 2024-01-31 criteria provided, single submitter clinical testing

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