ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser)

gnomAD frequency: 0.00009  dbSNP: rs200516126
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822194 SCV000962985 likely benign Developmental and epileptic encephalopathy, 36 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001573494 SCV001826320 likely benign not provided 2021-03-31 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573494 SCV001799454 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573494 SCV001971379 likely benign not provided no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001573494 SCV001978705 likely benign not provided no assertion criteria provided clinical testing

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