ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.183C>T (p.Ser61=)

gnomAD frequency: 0.00002  dbSNP: rs774448433
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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) RCV000723982 SCV000229189 uncertain significance not provided 2014-05-23 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000277991 SCV000478895 uncertain significance Kleefstra syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000177342 SCV000594509 likely benign not specified 2016-08-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000277991 SCV002350921 likely benign Kleefstra syndrome 1 2023-08-08 criteria provided, single submitter clinical testing

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