ClinVar Miner

Submissions for variant NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln)

dbSNP: rs1342402816
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217725 SCV001389576 benign Kleefstra syndrome 1 2024-01-24 criteria provided, single submitter clinical testing
GeneDx RCV001773485 SCV001992745 uncertain significance not provided 2019-06-21 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
AiLife Diagnostics, AiLife Diagnostics RCV001773485 SCV002501443 uncertain significance not provided 2021-06-05 criteria provided, single submitter clinical testing
Mendelics RCV002249809 SCV002519175 benign not specified 2022-05-04 criteria provided, single submitter clinical testing
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252332 SCV002523334 uncertain significance See cases 2019-11-01 criteria provided, single submitter clinical testing ACMG classification criteria: PM2

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