ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1089T>C (p.Gly363=)

gnomAD frequency: 0.49865  dbSNP: rs1129768
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082213 SCV000114162 benign not specified 2014-09-25 criteria provided, single submitter clinical testing
Preventiongenetics, part of Exact Sciences RCV000082213 SCV000314442 benign not specified criteria provided, single submitter clinical testing
Ambry Genetics RCV002311534 SCV000845876 benign Inborn genetic diseases 2016-03-11 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV001510478 SCV001717521 benign Kleefstra syndrome 1 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001610342 SCV001840781 benign not provided 2018-07-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001510478 SCV001875973 benign Kleefstra syndrome 1 2021-07-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000082213 SCV000151067 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000082213 SCV001743308 benign not specified no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000082213 SCV001956482 benign not specified no assertion criteria provided clinical testing

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