ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly)

gnomAD frequency: 0.00004  dbSNP: rs184599884
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002064463 SCV002340559 likely benign Developmental and epileptic encephalopathy, 36 2022-10-25 criteria provided, single submitter clinical testing
OMIM RCV002064463 SCV002568006 pathogenic Developmental and epileptic encephalopathy, 36 2022-08-29 no assertion criteria provided literature only

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