ClinVar Miner

Submissions for variant NM_033290.4(MID1):c.2000C>T (p.Pro667Leu) (rs147106995)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000078680 SCV000604226 benign not specified 2016-12-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000716337 SCV000847177 benign History of neurodevelopmental disorder 2015-08-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Center for Human Genetics, Inc RCV000659859 SCV000781739 uncertain significance Opitz-Frias syndrome 2016-11-01 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000078680 SCV000110540 benign not specified 2013-10-16 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000078680 SCV000151852 benign not specified 2015-02-23 criteria provided, single submitter clinical testing

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