ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) (rs142841538)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001081461 SCV000554233 benign Epileptic encephalopathy, early infantile, 36 2020-11-16 criteria provided, single submitter clinical testing
GeneDx RCV000602046 SCV000730812 benign not specified 2017-02-09 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Ambry Genetics RCV000715685 SCV000846516 benign History of neurodevelopmental disorder 2017-05-31 criteria provided, single submitter clinical testing General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Athena Diagnostics Inc RCV000456721 SCV001142982 likely benign not provided 2019-04-08 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000456721 SCV001930804 likely benign not provided no assertion criteria provided clinical testing

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