ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2976C>A (p.Pro992=)

dbSNP: rs746358240
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000242957 SCV000301709 likely benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000727508 SCV000709305 uncertain significance not provided 2017-06-20 criteria provided, single submitter clinical testing
GeneDx RCV000242957 SCV000727993 likely benign not specified 2018-03-01 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.
Illumina Laboratory Services, Illumina RCV001111075 SCV001268580 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001111075 SCV001471999 likely benign Wilson disease 2020-06-28 criteria provided, single submitter clinical testing
Invitae RCV001111075 SCV001701931 likely benign Wilson disease 2023-10-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001111075 SCV001977146 likely benign Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001111075 SCV002086838 likely benign Wilson disease 2020-03-15 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.