ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup)

dbSNP: rs750710267
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000807346 SCV000947394 benign Developmental and epileptic encephalopathy, 36 2025-02-03 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000807346 SCV001441060 likely benign Developmental and epileptic encephalopathy, 36 2019-01-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000807346 SCV002524935 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003965599 SCV004794373 likely benign ALG13-related disorder 2020-08-10 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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