ClinVar Miner

Submissions for variant NM_000096.4(CP):c.249T>C (p.Thr83=)

gnomAD frequency: 0.00058  dbSNP: rs138512757
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638594 SCV000760129 likely benign Deficiency of ferroxidase 2024-10-01 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711252 SCV005260915 likely benign not provided criteria provided, single submitter not provided

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