ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.85+9G>A

gnomAD frequency: 0.00016  dbSNP: rs566701810
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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 RCV000503254 SCV000594507 likely benign not specified 2016-07-22 criteria provided, single submitter clinical testing
Invitae RCV000638419 SCV000759933 likely benign Kleefstra syndrome 1 2024-01-26 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000638419 SCV001367195 likely benign Kleefstra syndrome 1 2019-03-01 criteria provided, single submitter clinical testing This variant was classified as: Likely benign. The following ACMG criteria were applied in classifying this variant: BP4,BP6.
PreventionGenetics, part of Exact Sciences RCV003942630 SCV004760804 likely benign EHMT1-related condition 2019-11-21 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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