ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.*15C>T (rs73498144)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000417733 SCV000052030 likely benign not specified 2016-04-20 criteria provided, single submitter clinical testing Variant summary: The ATP7B c.*15C>T variant affects a non-conserved nucleotide located in 3' UTR region. One in-silico tool predicts benign outcome for this variant. This variant is found predominantly in individuals of African descent (163/9770 control chromosomes) at a frequency of 0.0167, which is about 3 times of the maximal expected frequency of a pathogenic allele (0.0054006), suggesting the variant is benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical laboratories nor evaluated for functional impact by in vivo/vitro studies. Based on the frequency in general population, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000029382 SCV000384644 uncertain significance Wilson disease 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000417733 SCV000521836 likely benign not specified 2017-08-15 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000417733 SCV000602601 likely benign not specified 2016-12-04 criteria provided, single submitter clinical testing

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