ClinVar Miner

Submissions for variant NM_004830.4(MED23):c.3819G>A (p.Ala1273=) (rs150070422)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000194387 SCV000248034 benign not specified 2019-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718591 SCV000849455 benign History of neurodevelopmental disorder 2017-03-21 criteria provided, single submitter clinical testing General population or sub-population frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000960889 SCV001107917 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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