ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.352G>A (p.Asp118Asn)

gnomAD frequency: 0.00006  dbSNP: rs769655497
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000507116 SCV000602603 uncertain significance not specified 2016-12-02 criteria provided, single submitter clinical testing
Invitae RCV000945359 SCV001091364 likely benign Wilson disease 2024-01-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000945359 SCV001977199 likely benign Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000507116 SCV002556136 uncertain significance not specified 2022-06-24 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480658 SCV004226457 uncertain significance not provided 2022-11-21 criteria provided, single submitter clinical testing BS1

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