ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.383+2810T>C

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Dr.Nikuei Genetic Center RCV004698594 SCV005200303 likely benign Developmental and epileptic encephalopathy, 36 2024-06-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003961863 SCV004776371 likely benign ALG13-related disorder 2023-09-26 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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