ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1843C>T (p.Leu615=)

gnomAD frequency: 0.00060  dbSNP: rs374231091
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704426 SCV000529775 likely benign not provided 2021-06-22 criteria provided, single submitter clinical testing
Invitae RCV000530576 SCV000652509 benign Developmental and epileptic encephalopathy, 36 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000530576 SCV002524921 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000530576 SCV002810782 likely benign Developmental and epileptic encephalopathy, 36 2021-12-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003970199 SCV004782348 likely benign ALG13-related condition 2020-08-20 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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