ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn)

dbSNP: rs138283222
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000176118 SCV000227720 benign not specified 2014-05-21 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000514513 SCV000610887 likely benign not provided 2017-06-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000341037 SCV000636598 likely benign Kleefstra syndrome 1 2024-01-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002317021 SCV000849809 likely benign Inborn genetic diseases 2017-05-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV000514513 SCV001888734 benign not provided 2019-10-18 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000176118 SCV002064637 likely benign not specified 2019-07-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000514513 SCV005224880 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003937591 SCV004755799 likely benign EHMT1-related disorder 2021-08-31 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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