ClinVar Miner

Submissions for variant NM_007254.4(PNKP):c.579G>A (p.Arg193=) (rs145904995)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000173036 SCV000113441 benign not specified 2015-05-05 criteria provided, single submitter clinical testing
GeneDx RCV000173036 SCV000171050 benign not specified 2013-09-30 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.
Genetic Services Laboratory,University of Chicago RCV000173036 SCV000194738 likely benign not specified 2015-05-15 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000289366 SCV000414353 benign Early infantile epileptic encephalopathy 10 2018-01-12 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.
Invitae RCV001084377 SCV000560517 benign Early infantile epileptic encephalopathy 12 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716114 SCV000846949 likely benign History of neurodevelopmental disorder 2016-06-18 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
CeGaT Praxis fuer Humangenetik Tuebingen RCV000464840 SCV001151997 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing

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