ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser)

gnomAD frequency: 0.00006  dbSNP: rs764006601
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000820474 SCV000961189 likely benign Kleefstra syndrome 1 2023-12-21 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV000820474 SCV001429525 uncertain significance Kleefstra syndrome 1 2017-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001528830 SCV002757081 uncertain significance not provided 2022-05-23 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002537472 SCV003539450 likely benign Inborn genetic diseases 2021-07-09 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001528830 SCV001741241 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001528830 SCV001975115 uncertain significance not provided no assertion criteria provided clinical testing

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