ClinVar Miner

Submissions for variant NM_000807.4(GABRA2):c.881C>T (p.Thr294Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003312603 SCV004011533 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing GABRA2: PM2, PP2, PP3
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg RCV003883213 SCV004697504 pathogenic Developmental and epileptic encephalopathy, 78 2024-02-27 criteria provided, single submitter clinical testing This variant has been identified by standard clinical testing. Selected ACMG criteria: Pathogenic (III):PP3;PP2;PM2;PM1;PS2

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