ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1029T>C (p.Ser343=)

gnomAD frequency: 0.00001  dbSNP: rs772765360
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000650344 SCV000772187 likely benign Developmental and epileptic encephalopathy, 36 2024-01-18 criteria provided, single submitter clinical testing
GeneDx RCV004822146 SCV005443093 uncertain significance not provided 2024-07-02 criteria provided, single submitter clinical testing In silico analysis indicates that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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