ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.3716+9C>T

gnomAD frequency: 0.00017  dbSNP: rs777993644
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638408 SCV000759919 likely benign Kleefstra syndrome 1 2023-05-11 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003905721 SCV004725161 likely benign EHMT1-related condition 2019-04-05 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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