ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2955C>T (p.Cys985=)

gnomAD frequency: 0.00227  dbSNP: rs116587608
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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725741 SCV000339094 uncertain significance not provided 2016-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000725741 SCV000523188 likely benign not provided 2020-09-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001080148 SCV000752270 benign Wilson disease 2024-01-29 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000725741 SCV000883442 likely benign not provided 2017-08-22 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001080148 SCV001268582 uncertain significance Wilson disease 2019-06-26 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001080148 SCV001977148 likely benign Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436109 SCV002750173 likely benign Inborn genetic diseases 2022-03-07 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509346 SCV002819780 likely benign not specified 2022-12-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725741 SCV004811105 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing ATP7B: BP4, BP7, BS2
All of Us Research Program, National Institutes of Health RCV001080148 SCV004845451 benign Wilson disease 2024-02-05 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000725741 SCV001931926 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000725741 SCV001966334 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001080148 SCV002086840 benign Wilson disease 2019-10-21 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003947909 SCV004761630 likely benign ATP7B-related disorder 2019-12-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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