ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=)

gnomAD frequency: 0.00003  dbSNP: rs374547003
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000817731 SCV000958310 benign Kleefstra syndrome 1 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001548715 SCV001768675 likely benign not provided 2020-02-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002325609 SCV002610671 benign Inborn genetic diseases 2019-09-07 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.
CeGaT Center for Human Genetics Tuebingen RCV001548715 SCV004164081 likely benign not provided 2023-01-01 criteria provided, single submitter clinical testing EHMT1: BP4, BP7

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