ClinVar Miner

Submissions for variant NM_000096.4(CP):c.394+19G>A

gnomAD frequency: 0.00272  dbSNP: rs188121726
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 RCV002181571 SCV002488757 benign Deficiency of ferroxidase 2024-10-30 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004716885 SCV005305127 benign not provided criteria provided, single submitter not provided

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