ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2310C>G (p.Leu770=)

gnomAD frequency: 0.00005  dbSNP: rs398123136
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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000078042 SCV000109880 benign not specified 2012-12-17 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078042 SCV000192326 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000078042 SCV000301701 likely benign not specified criteria provided, single submitter clinical testing
GeneDx RCV001310698 SCV000730410 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 23235335, 11405812, 24878384, 18034201, 22308153, 27398169, 27022412, 27706781, 26650869, 26112727, 33763395)
Labcorp Genetics (formerly Invitae), Labcorp RCV000631249 SCV000752274 likely benign Wilson disease 2024-01-19 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000631249 SCV001272332 uncertain significance Wilson disease 2017-04-28 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.
Genome-Nilou Lab RCV000631249 SCV001977162 likely benign Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000631249 SCV003800584 benign Wilson disease 2022-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162506 SCV003911075 likely benign Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
All of Us Research Program, National Institutes of Health RCV000631249 SCV004845541 likely benign Wilson disease 2024-01-03 criteria provided, single submitter clinical testing
Natera, Inc. RCV000631249 SCV001463835 likely benign Wilson disease 2020-09-16 no assertion criteria provided clinical testing

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