ClinVar Miner

Submissions for variant NM_002578.5(PAK3):c.10G>A (p.Gly4Ser) (rs140296303)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000499388 SCV000596207 likely benign not specified 2015-10-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716514 SCV000847355 benign History of neurodevelopmental disorder 2018-04-04 criteria provided, single submitter clinical testing In silico models in agreement (benign);Sub-population frequency in support of benign classification (not ava blue, manual h-w);Subpopulation frequency in support of benign classification
Illumina Clinical Services Laboratory,Illumina RCV001169822 SCV001332600 benign Mental retardation 30, X-linked 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.

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