ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) (rs5985637)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000232426 SCV000285847 benign Epileptic encephalopathy, early infantile, 36 2019-12-25 criteria provided, single submitter clinical testing
GeneDx RCV000444513 SCV000520679 benign not specified 2016-01-18 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.
Athena Diagnostics Inc RCV000444513 SCV000612314 benign not specified 2017-06-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716051 SCV000846884 benign History of neurodevelopmental disorder 2016-06-22 criteria provided, single submitter clinical testing

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