ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) (rs145353928)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439924 SCV000521944 benign not specified 2016-04-06 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.
Invitae RCV001080168 SCV000554232 benign Epileptic encephalopathy, early infantile, 36 2019-12-24 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710501 SCV000840737 benign not provided 2017-12-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715608 SCV000846437 benign History of neurodevelopmental disorder 2016-05-02 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

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