ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala)

gnomAD frequency: 0.00001  dbSNP: rs781178409
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000202876 SCV000257858 uncertain significance not specified 2015-06-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001222392 SCV001394489 likely benign Developmental and epileptic encephalopathy, 36 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV001770152 SCV001994271 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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