ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1218G>A (p.Ala406=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003518166 SCV004261215 likely benign Deficiency of ferroxidase 2024-10-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003980976 SCV004791329 likely benign CP-related disorder 2023-12-11 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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