ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val)

gnomAD frequency: 0.00013  dbSNP: rs377397506
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498678 SCV000590312 likely benign not provided 2020-12-14 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000650342 SCV000772185 likely benign Developmental and epileptic encephalopathy, 36 2024-02-10 criteria provided, single submitter clinical testing

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