ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
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 Kleefstra syndrome 1 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000718170 SCV000849032 benign History of neurodevelopmental disorder 2016-10-13 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
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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