ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) (rs145798966)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000244316 SCV000301695 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000244316 SCV000518709 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001086715 SCV000602599 benign Wilson disease 2020-02-11 criteria provided, single submitter clinical testing
Invitae RCV001086715 SCV000626831 benign Wilson disease 2020-12-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000244316 SCV000694400 likely benign not specified 2020-11-13 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000590083 SCV000704531 uncertain significance not provided 2016-12-20 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000590083 SCV001150661 likely benign not provided 2019-06-01 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001086715 SCV001268683 uncertain significance Wilson disease 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Natera, Inc. RCV001086715 SCV001456186 likely benign Wilson disease 2019-12-29 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000590083 SCV001807687 likely benign not provided no assertion criteria provided clinical testing

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