ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.942C>T (p.Pro314=) (rs145172949)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000415864 SCV000493158 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
Invitae RCV001084732 SCV000638258 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716245 SCV000847083 likely benign History of neurodevelopmental disorder 2016-07-05 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign;In silico models in agreement (benign)
Illumina Clinical Services Laboratory,Illumina RCV001084732 SCV001278476 benign Epilepsy, focal, with speech disorder and with or without mental retardation 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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