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
Ambry Genetics RCV000715474 SCV000846303 likely benign History of neurodevelopmental disorder 2017-05-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,No disease association in small case-control study
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.
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).
Genetic Services Laboratory, University of Chicago RCV000117185 SCV000151349 benign not specified 2015-09-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000230705 SCV000400150 likely benign Epilepsy, focal, with speech disorder and with or without mental retardation 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000230705 SCV000285632 benign Epilepsy, focal, with speech disorder and with or without mental retardation 2017-12-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000117185 SCV000305563 benign not specified criteria provided, single submitter clinical testing

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