ClinVar Miner

Submissions for variant NM_000096.4(CP):c.1945G>A (p.Ala649Thr)

gnomAD frequency: 0.00186  dbSNP: rs141466225
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000945997 SCV001092076 likely benign Deficiency of ferroxidase 2025-02-03 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579395 SCV001807079 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579395 SCV001973038 likely benign not provided no assertion criteria provided clinical testing

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