ClinVar Miner

Submissions for variant NM_000807.4(GABRA2):c.1003A>C (p.Asn335His)

dbSNP: rs1560442716
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV000850100 SCV003816258 uncertain significance Developmental and epileptic encephalopathy, 78 2022-11-23 criteria provided, single submitter clinical testing
The Raphael Recanati Genetics Institute, Rabin Medical Center RCV000754792 SCV000882674 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-09-13 no assertion criteria provided clinical testing
OMIM RCV000850100 SCV000992264 pathogenic Developmental and epileptic encephalopathy, 78 2020-11-25 no assertion criteria provided literature only

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