ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)

gnomAD frequency: 0.00329  dbSNP: rs61733684
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145259 SCV000192322 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145259 SCV000301699 likely benign not specified criteria provided, single submitter clinical testing
Eurofins NTD LLC (GA) RCV000145259 SCV000345552 likely benign not specified 2016-09-13 criteria provided, single submitter clinical testing
GeneDx RCV000588095 SCV000525442 benign not provided 2020-05-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 10502777, 18371106, 28776642, 9671269)
Invitae RCV001084480 SCV000626838 benign Wilson disease 2021-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000588095 SCV001150658 likely benign not provided 2022-05-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV001084480 SCV001267850 likely benign Wilson disease 2019-05-02 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000145259 SCV001339142 likely benign not specified 2020-03-05 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001084480 SCV001477662 benign Wilson disease 2020-08-21 criteria provided, single submitter clinical testing
GenomeConnect, ClinGen RCV000588095 SCV001423300 not provided not provided no assertion provided phenotyping only Variant interpretted as Likely benign and reported on 09-19-2018 by Lab or GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
Natera, Inc. RCV001084480 SCV001456180 likely benign Wilson disease 2020-04-15 no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000145259 SCV001809003 benign not specified no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV000145259 SCV001921428 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000145259 SCV001930955 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000588095 SCV001963836 likely benign not provided no assertion criteria provided clinical testing

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