ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp)

gnomAD frequency: 0.00006  dbSNP: rs778396216
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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 RCV000469041 SCV000541276 likely benign Developmental and epileptic encephalopathy, 36 2024-12-07 criteria provided, single submitter clinical testing
GeneDx RCV001696797 SCV000572696 uncertain significance not provided 2020-02-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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