ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1939T>A (p.Phe647Ile)

gnomAD frequency: 0.00003  dbSNP: rs755977561
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ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000807231 SCV000947274 likely benign Deficiency of ferroxidase 2022-11-28 criteria provided, single submitter clinical testing

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