ClinVar Miner

Submissions for variant NM_000053.4(ATP7B):c.1707+9T>C (rs114449708)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000029353 SCV000051999 benign Wilson disease 2011-08-18 criteria provided, single submitter curation Converted during submission to Benign.
PreventionGenetics,PreventionGenetics RCV000249095 SCV000301696 benign not specified criteria provided, single submitter clinical testing
GeneDx RCV000249095 SCV000521844 benign not specified 2016-02-22 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.
Invitae RCV000029353 SCV000626832 benign Wilson disease 2019-12-31 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000029353 SCV001268682 benign Wilson disease 2018-01-23 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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.

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