ClinVar Miner

Submissions for variant NM_000834.5(GRIN2B):c.1937A>G (p.Tyr646Cys)

dbSNP: rs1565474582
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000680002 SCV000807440 uncertain significance Developmental and epileptic encephalopathy, 27 2017-09-01 criteria provided, single submitter clinical testing Likely pathogenicity based on finding it once in our laboratory de novo in a 5-year-old female with global delays, absent speech, supranuclear hypotonia, abnormal movements, dysmorphisms, short stature, failure to thrive, esotropia
Laboratoire Génétique Moléculaire, CHRU TOURS RCV001542071 SCV001760734 pathogenic not provided 2020-03-19 criteria provided, single submitter clinical testing
GenomeConnect - Simons Searchlight RCV001265477 SCV001443614 likely pathogenic Complex neurodevelopmental disorder 2018-06-08 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-06-08 and interpreted as Likely Pathogenic. Variant was initially reported on 2013-07-12 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar.

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