ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.1983G>A (p.Ser661=)

gnomAD frequency: 0.00051  dbSNP: rs143204067
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000638423 SCV000759938 benign Kleefstra syndrome 1 2025-01-27 criteria provided, single submitter clinical testing
GeneDx RCV001672906 SCV001886220 benign not provided 2020-11-30 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004742548 SCV005342870 likely benign EHMT1-related disorder 2024-06-17 no assertion criteria provided 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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