Submissions for variant NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) (rs144603232)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Clinical Services Laboratory,Illumina	RCV000362161	SCV000478897	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	RCV000429185	SCV000510682	likely benign	not provided	2016-09-23	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Invitae	RCV000362161	SCV000636603	benign	Chromosome 9q deletion syndrome	2017-12-18	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000718170	SCV000849032	benign	History of neurodevelopmental disorder	2016-10-13	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
Genetic Services Laboratory, University of Chicago	RCV000116963	SCV000151079	likely benign	not specified		no assertion criteria provided	clinical testing	Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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