ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.354T>G (p.Ser118=)

gnomAD frequency: 0.00150  dbSNP: rs142271310
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000082234 SCV000114183 benign not specified 2013-08-08 criteria provided, single submitter clinical testing
Invitae RCV000543474 SCV000636610 benign Kleefstra syndrome 1 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313825 SCV000847374 likely benign Inborn genetic diseases 2016-08-03 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.
GeneDx RCV001668210 SCV001883026 benign not provided 2018-09-12 criteria provided, single submitter clinical testing

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