ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2356-16del

dbSNP: rs1257703465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198633 SCV001369627 uncertain significance Wilson disease 2019-07-05 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: PM2.
Labcorp Genetics (formerly Invitae), Labcorp RCV001198633 SCV002331339 likely benign Wilson disease 2024-03-07 criteria provided, single submitter clinical testing

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