ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu)

gnomAD frequency: 0.00014  dbSNP: rs146711478
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725838 SCV000339845 uncertain significance not provided 2016-02-29 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000346698 SCV000594526 benign not specified 2017-05-25 criteria provided, single submitter clinical testing
Invitae RCV001055403 SCV001219791 benign Kleefstra syndrome 1 2024-01-01 criteria provided, single submitter clinical testing
GeneDx RCV000725838 SCV001805540 likely benign not provided 2019-10-11 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000725838 SCV002564090 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing EHMT1: BP4, BS2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252236 SCV001427987 uncertain significance Intellectual disability 2019-01-01 no assertion criteria provided clinical testing

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