ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser)

gnomAD frequency: 0.00002  dbSNP: rs773286994
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000882183 SCV001025410 benign Developmental and epileptic encephalopathy, 36 2024-01-02 criteria provided, single submitter clinical testing
GeneDx RCV001556965 SCV001778644 likely benign not provided 2021-05-21 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000882183 SCV002524926 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000882183 SCV002808041 likely benign Developmental and epileptic encephalopathy, 36 2021-11-19 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003920566 SCV004732982 likely benign ALG13-related disorder 2023-03-08 criteria provided, single submitter 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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