ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.288C>T (p.Leu96=)

gnomAD frequency: 0.00007  dbSNP: rs369867857
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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 RCV001517370 SCV001725853 benign Developmental and epileptic encephalopathy, 36 2023-12-30 criteria provided, single submitter clinical testing
GeneDx RCV001587451 SCV001823039 likely benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001517370 SCV002524902 benign Developmental and epileptic encephalopathy, 36 2021-12-05 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001517370 SCV002809615 likely benign Developmental and epileptic encephalopathy, 36 2022-04-15 criteria provided, single submitter clinical testing

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