ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.363C>T (p.Gly121=)

gnomAD frequency: 0.00063  dbSNP: rs144352877
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000329408 SCV000759923 benign Kleefstra syndrome 1 2024-01-22 criteria provided, single submitter clinical testing
GeneDx RCV001706611 SCV001836609 benign not provided 2019-11-30 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001706611 SCV002546134 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing EHMT1: BP4, BP7
Ambry Genetics RCV002348121 SCV002619398 likely benign Inborn genetic diseases 2017-07-19 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.

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