ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.544T>A (p.Cys182Ser)

gnomAD frequency: 0.00009  dbSNP: rs778876158
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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 RCV001453711 SCV001657410 likely benign Developmental and epileptic encephalopathy, 36 2023-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003900562 SCV004708981 likely benign ALG13-related disorder 2022-04-21 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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