ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) (rs34704821)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000116964 SCV000151082 benign not specified 2016-05-04 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000116964 SCV000229190 benign not specified 2014-05-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000336184 SCV000478905 likely benign Chromosome 9q deletion syndrome 2016-06-14 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514021 SCV000610946 benign not provided 2017-05-03 criteria provided, single submitter clinical testing
Invitae RCV000336184 SCV000636623 benign Chromosome 9q deletion syndrome 2017-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV000715847 SCV000846678 benign History of neurodevelopmental disorder 2016-05-26 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

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