ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.2604C>T (p.Pro868=)

gnomAD frequency: 0.00005  dbSNP: rs368902724
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000864911 SCV001005795 likely benign Wilson disease 2024-01-16 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000864911 SCV002050049 likely benign Wilson disease 2021-05-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003326498 SCV004033262 likely benign not provided 2023-07-01 criteria provided, single submitter clinical testing ATP7B: BP4, BP7
PreventionGenetics, part of Exact Sciences RCV003892806 SCV004712988 likely benign ATP7B-related condition 2021-10-16 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. RCV000864911 SCV001456174 uncertain significance Wilson disease 2020-04-15 no assertion criteria provided clinical testing

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