ClinVar Miner

Submissions for variant NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) (rs768589790)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650349 SCV000772192 benign Epileptic encephalopathy, early infantile, 36 2017-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000719328 SCV000850194 benign History of neurodevelopmental disorder 2016-09-09 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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