ClinVar Miner

Submissions for variant NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) (rs61758995)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000117185 SCV000151349 benign not specified 2015-09-24 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000117185 SCV000226046 benign not specified 2017-12-06 criteria provided, single submitter clinical testing
GeneDx RCV000117185 SCV000241225 benign not specified 2014-06-09 criteria provided, single submitter clinical testing The variant is found in CHILD-EPI,EPILEPSY,INFANT-EPI panel(s).
Invitae RCV000230705 SCV000285632 benign Epilepsy, focal, with speech disorder and with or without mental retardation 2019-12-31 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000117185 SCV000305563 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230705 SCV000400150 benign Epilepsy, focal, with speech disorder and with or without mental retardation 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.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000419597 SCV000510655 likely benign not provided 2017-02-06 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000715474 SCV000846303 likely benign History of neurodevelopmental disorder 2018-06-04 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;No disease association in small case-control study

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