ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=)

gnomAD frequency: 0.00022  dbSNP: rs367688971
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195269 SCV000247277 uncertain significance not specified 2014-07-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV002314812 SCV000847800 likely benign Inborn genetic diseases 2016-09-08 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.
Invitae RCV000895300 SCV001039333 likely benign Kleefstra syndrome 1 2024-01-03 criteria provided, single submitter clinical testing
GeneDx RCV001589067 SCV001814354 likely benign not provided 2021-01-04 criteria provided, single submitter clinical testing

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