ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=)

gnomAD frequency: 0.00078  dbSNP: rs373081328
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000590019 SCV000528455 likely benign not provided 2021-01-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000428724 SCV000694446 likely benign not specified 2019-08-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000590019 SCV000705072 uncertain significance not provided 2017-01-24 criteria provided, single submitter clinical testing
Invitae RCV001081467 SCV000752275 benign Wilson disease 2024-01-31 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001081467 SCV001474565 likely benign Wilson disease 2021-11-11 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001081467 SCV001977556 likely benign Wilson disease 2021-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002451013 SCV002614986 likely benign Inborn genetic diseases 2022-06-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health RCV001081467 SCV004361966 likely benign Wilson disease 2022-08-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003932647 SCV004753909 likely benign ATP7B-related condition 2021-08-25 criteria provided, single submitter 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).
Natera, Inc. RCV001081467 SCV001454153 likely benign Wilson disease 2020-04-15 no assertion criteria provided clinical testing

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