ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1458C>T (p.Asn486=)

gnomAD frequency: 0.00014  dbSNP: rs144537170
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002079189 SCV002425074 likely benign Deficiency of ferroxidase 2024-08-04 criteria provided, single submitter clinical testing

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