ClinVar Miner

Submissions for variant NM_000833.3:c.(?_-310-1)_(414+1_415-1)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001293856 SCV001482474 likely pathogenic Epilepsy 2021-03-04 no assertion criteria provided clinical testing The variant chr16:g.(?_10273958)_(10273855_10032406)del, GRIN2A(NM_000833.3):c.(?_-310-1)_(414+1_415-1)del,p.0 was identified in an individual with Epilepsy. Inheritance was maternal (heterozygous). The variant was reviewed according to current ACMG recommendations and classified as Likely Pathogenic (criteria: PVS1_VeryStrong, PM2_Supporting).

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