ClinVar Miner

Submissions for variant NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter)

gnomAD frequency: 0.00376  dbSNP: rs182004761
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118962 SCV000153632 uncertain significance not provided 2014-01-24 criteria provided, single submitter clinical testing
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000238839 SCV000296984 benign not specified 2015-11-06 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000238839 SCV000540706 likely benign not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: frequency 0.98% in European population (ExAC) with 55 hemizygotes
CeGaT Center for Human Genetics Tuebingen RCV000118962 SCV001156012 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000118962 SCV001741715 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000118962 SCV001800751 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000118962 SCV001969308 likely benign not provided no assertion criteria provided clinical testing

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