ClinVar Miner

Submissions for variant NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) (rs2073376)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000147222 SCV000194589 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000147222 SCV000203212 benign not specified 2014-03-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000608247 SCV000437093 benign Microcephalic osteodysplastic primordial dwarfism type II 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000608247 SCV000745103 benign Microcephalic osteodysplastic primordial dwarfism type II 2017-05-31 criteria provided, single submitter clinical testing
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000608247 SCV000734114 benign Microcephalic osteodysplastic primordial dwarfism type II no assertion criteria provided clinical testing

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